Varaico: Literature-Extracted Genetic Variants

Gene:GET1
Variant:p.M1insFs

GET1

17 papers

RefSeq Summary

This gene is located in the candidate region for congenital heart disease (CHD) in Down syndrome (DS). It encodes a basic protein that functions as a receptor that promotes insertion of tail-anchored ...

Pfam Domains

CHD5aa 12–163UCSCCHD5-like protein

Gene Aliases

HGNC Name

guided entry of tail-anchored proteins factor 1

HGNC Previous Symbol

WRB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004627.6
p.M1insFs
c.1dupA
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