Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.T169I

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
1 paper
NM_001002295.2
p.T169I
c.506C>T
Surrounding Variants
1 paper
NM_001002295.2
p.T169fs
c.505_506fs
1 paper
NM_001002295.2
p.P170fs
c.508_509fs
1 paper
NM_001002295.2
p.P170_A173del0
c.510_518del9
2 papers
NM_001002295.2
p.G174_A176ins1
c.520_528dup9
1 paper
NM_001002295.2
p.G174_A176del0
c.520_528del9
1 paper
NM_001002295.2
p.S168T
c.502T>A
1 paper
NM_001002295.2
p.G171R
c.511G>C
1 paper
NM_001002295.2
p.S168insFs
c.502dupT
1 paper
NM_001002295.2
p.G171V
c.512G>T
1 paper
NM_001002295.2
p.S166S
c.498G>A
6 papers
NM_001002295.2
p.S172*
c.515C>A
5 papers
NM_001002295.2
p.S172L
c.515C>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."