Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.H91L

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.H91L
c.272A>T
Surrounding Variants
2 papers
NM_001002295.2
p.G92*
c.274G>T
2 papers
NM_001002295.2
p.L90P
c.269T>C
1 paper
NM_001002295.2
p.G92G
c.276A>T
1 paper
NM_001002295.2
p.L90F
c.268C>T
3 papers
NM_001002295.2
p.S93F
c.278C>T
1 paper
NM_001002295.2
p.L89V
c.265C>G
1 paper
NM_001002295.2
p.L94I
c.280C>A
1 paper
NM_001002295.2
p.S93_L97delins
c.278_289delinsCCGCCTCCT
2 papers
NM_001002295.2
p.L89insFs
c.265dupC
1 paper
NM_001002295.2
p.P88L
c.263C>T
1 paper
NM_001002295.2
p.L94insFs
c.282dupA
1 paper
NM_001002295.2
p.P95T
c.283C>A
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