Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.S131fs

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.S131fs
c.391_392fs
Surrounding Variants
1 paper
NM_001002295.2
p.S131fs
c.391_392fs
1 paper
NM_001002295.2
p.S131F
c.392C>T
1 paper
NM_001002295.2
p.L130V
c.388C>G
1 paper
NM_001002295.2
p.V132I
c.394G>A
2 papers
NM_001002295.2
p.P129S
c.385C>T
1 paper
NM_001002295.2
p.Y133H
c.397T>C
13 papers
NM_001002295.2
p.P135insFs
c.404dupC
5 papers
NM_001002295.2
p.P135delFs
c.404delC
2 papers
NM_001002295.2
p.G128W
c.382G>T
1 paper
NM_001002295.2
p.P134H
c.401C>A
1 paper
NM_001002295.2
p.P134L
c.401C>T
1 paper
NM_001002295.2
p.P127P
c.381G>A
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