Varaico: Literature-Extracted Genetic Variants

Gene:HSPA6
Variant:p.G447V
Back to variants list

HSPA6

NM_002155.5:p.G447V

Associated Papers

A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23.1.

Li Y et al.

Pediatric Research, 2024

Mechanisms of action and resistance in histone methylation-targeted therapy.

Yamagishi M et al.

Nature, 2024

38383791 (PubMed )
Supplement: 41586_2024_7103_MOESM3_ESM.xlsx › Sup_Table_3

Characterization of the genomic alterations in poorly differentiated thyroid cancer.

Lee Y et al.

Scientific Reports, 2023

37932340 (PubMed )
Supplement: 41598_2023_46466_MOESM2_ESM.xlsx › P05

Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.

Segur-Bailach E et al.

Journal of Clinical Medicine, 2022

35330074 (PubMed )
Supplement: jcm-11-01749-s001.zip › Supl_Table_S2.pdf

Genomic and transcriptomic profiling of carcinogenesis in patients with familial adenomatous polyposis.

Li J et al.

Gut, 2020

31744909 (PubMed )
Supplement: gutjnl-2019-319438supp006.xlsx › All_Somatic_mutations__CRC_

HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum.

Kause F et al.

Birth Defects Research, 2019

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."