Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A1
Variant:p.P868L
Back to variants list

SLC4A1

NM_000342.4:p.P868L

Associated Papers

Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder.

Wang T et al.

Computational and Structural Biotechnology Journal, 2023

38213898 (PubMed )
Supplement: mmc2.xlsx › RIVs_in_VARGs

Using whole-genome sequencing to characterize clinically significant blood groups among healthy older Australians.

Jadhao S et al.

Blood Advances, 2022

35420653 (PubMed )
Supplement: mmc1.xlsx › Supplementary_table2

RBCeq: A robust and scalable algorithm for accurate genetic blood typing.

Jadhao S et al.

Ebiomedicine, 2022

35033986 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table10

Cell physiology and molecular mechanism of anion transport by erythrocyte band 3/AE1.

Jennings ML

American Journal of Physiology. Cell Physiology, 2021

The Genetic Landscape of Ocular Adnexa MALT Lymphoma Reveals Frequent Aberrations in NFAT and MEF2B Signaling Pathways.

Magistri M et al.

Cancer Research Communications, 2021

35528192 (PubMed )
Supplement: crc-21-0022-s03.xlsx › HCandMUTECT_variants_mutrate10g

Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.

Ye Y et al.

Experimental Hematology & Oncology, 2021

33546774 (PubMed )
Supplement: 40164_2021_200_MOESM2_ESM.xlsx › Table_S2

Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Xiang J et al.

Scientific Reports, 2020

31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1

High-frequency actionable pathogenic exome variants in an average-risk cohort.

Rego S et al.

Cold Spring Harbor Molecular Case Studies, 2018

30487145 (PubMed )
Supplement: supp_mcs.a003178_Supplemental_File_1.xlsx › Sheet1

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

Rivas MA et al.

Plos Genetics, 2018

29795570 (PubMed )
Supplement: pgen.1007329.s012.xlsx › Data_File_S3

Asymmetry of inverted-topology repeats in the AE1 anion exchanger suggests an elevator-like mechanism.

Ficici E et al.

The Journal of General Physiology, 2017

Crystal structure of the anion exchanger domain of human erythrocyte band 3.

Arakawa T et al.

Science (new York, N.y.), 2015

Disease variants in genomes of 44 centenarians.

Freudenberg-Hua Y et al.

Molecular Genetics & Genomic Medicine, 2014

25333069 (PubMed )
Supplement: mgg30002-0438-SD2.pdf

Deep sequencing reveals clonal evolution patterns and mutation events associated with relapse in B-cell lymphomas.

Jiang Y et al.

Genome Biology, 2014

25123191 (PubMed )
Supplement: 13059_2014_432_MOESM4_ESM.xlsx › Patient_13

Three-dimensional model for the human Cl-/HCO3- exchanger, AE1, by homology to the E. coli ClC protein.

Bonar P et al.

Journal of Molecular Biology, 2013

Topology models of anion exchanger 1 that incorporate the anti-parallel V-shaped motifs found in the EM structure.

Hirai T et al.

Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2011

The substrate anion selectivity filter in the human erythrocyte Cl-/HCO3- exchange protein, AE1.

Zhu Q et al.

The Journal of Biological Chemistry, 2004

Novel topology in C-terminal region of the human plasma membrane anion exchanger, AE1.

Zhu Q et al.

The Journal of Biological Chemistry, 2003

Topology of the membrane domain of human erythrocyte anion exchange protein, AE1.

Fujinaga J et al.

The Journal of Biological Chemistry, 1999

Electrogenic sulfate/chloride exchange in Xenopus oocytes mediated by murine AE1 E699Q.

Chernova MN et al.

The Journal of General Physiology, 1997

Band 3 Memphis variant II. Altered stilbene disulfonate binding and the Diego (Dia) blood group antigen are associated with the human erythrocyte band 3 mutation Pro854-->Leu.

Bruce LJ et al.

The Journal of Biological Chemistry, 1994

Increased membrane protein phosphorylation and anion transport activity in chorea-acanthocytosis.

Olivieri O et al.

Haematologica, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."