Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.S175_A176ins0

GATA3

1,055 papers

RefSeq Summary

This gene encodes a protein which belongs to the GATA family of transcription factors. The protein contains two GATA-type zinc fingers and is an important regulator of T-cell development and plays an ...

Pfam Domains

GATAaa 263–297UCSCGATA zinc finger
GATAaa 317–351UCSCGATA zinc finger

Gene Aliases

HGNC Name

GATA binding protein 3

HGNC Alias Symbol

HDR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001002295.2
p.S175_A176ins0
c.523_528dup6
Surrounding Variants
1 paper
NM_001002295.2
p.G174G
c.522C>T
2 papers
NM_001002295.2
p.G174S
c.520G>A
3 papers
NM_001002295.2
p.S175L
c.524C>T
1 paper
NM_001002295.2
p.A173fs
c.517_518fs
1 paper
NM_001002295.2
p.A173fs
c.517_518fs
7 papers
NM_001002295.2
p.A176insFs
c.528dupC
6 papers
NM_001002295.2
p.S172*
c.515C>A
5 papers
NM_001002295.2
p.S172L
c.515C>T
1 paper
NM_001002295.2
p.A176V
c.527C>T
4 papers
NM_001002295.2
p.A173delFs
c.517delG
1 paper
NM_001002295.2
p.R177_K185del0
c.529_555del27
2 papers
NM_001002295.2
p.R177W
c.529C>T
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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."