Varaico: Literature-Extracted Genetic Variants

Gene:GATAD1
Variant:p.K164_Y166del3

GATAD1

47 papers

RefSeq Summary

The protein encoded by this gene contains a zinc finger at the N-terminus, and is thought to bind to a histone modification site that regulates gene expression. Mutations in this gene have been associ...

Gene Aliases

HGNC Name

GATA zinc finger domain containing 1

HGNC Alias Symbols

ODAG; RG083M05.2; FLJ22489

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021167.5
p.K164_Y166del3
c.490_497del9
Surrounding Variants
1 paper
NM_021167.5
p.G172D
c.515G>A
1 paper
NM_021167.5
p.Q175R
c.524A>G
2 papers
NM_021167.5
p.E180V
c.539A>T
1 paper
NM_021167.5
p.T191P
c.571A>C
1 paper
NM_021167.5
p.A202T
c.604G>A
1 paper
NM_021167.5
p.I205V
c.613A>G
1 paper
NM_021167.5
p.G207E
c.620G>A
1 paper
NM_021167.5
p.D211N
c.631G>A
1 paper
NM_021167.5
p.E217K
c.649G>A
3 papers
NM_021167.5
p.R233W
c.697C>T
1 paper
NM_021167.5
p.R233Q
c.698G>A
1 paper
NM_021167.5
p.S234T
c.700T>A
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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."