Varaico: Literature-Extracted Genetic Variants

Gene:SPTB
Variant:p.R1403Q
Back to variants list

SPTB

NM_001355436.2:p.R1403Q

Associated Papers

Two Variants of the ANK1 Gene Associated with Hereditary Spherocytosis.

Bogusławska DM et al.

Biomedicines, 2025

Genetic variations and recurrence in stage III Korean colorectal cancer: Insights from tumor-only mutation analysis.

Jeon H et al.

Plos One, 2025

40408428 (PubMed )
Supplement: pone.0323302.s003.xlsx › Sheet1

Comprehensive Molecular Characterization of Soft Tissue Sarcoma for Prediction of Pazopanib-Based Treatment Response.

Hong JY et al.

Cancer Research and Treatment, 2023

36164943 (PubMed )
Supplement: crt-2022-251-Supplementary-Table-2.xlsx › S3_Table

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table1.XLS › Sheet

Common host variation drives malaria parasite fitness in healthy human red cells.

Ebel ER et al.

Elife, 2021

34553687 (PubMed )
Supplement: elife-69808-fig5-data3.xlsx › Sheet1

A Vietnamese human genetic variation database.

Le VS et al.

Human Mutation, 2019

Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA.

Maciag M et al.

British Journal of Haematology, 2009

Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis.

Maillet P et al.

Human Mutation, 1996

Molecular genetics of hereditary elliptocytosis and hereditary spherocytosis.

Delaunay J et al.

Annales De Genetique, 1996

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."