Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.Q83R

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.Q83R
c.248A>G
Surrounding Variants
2 papers
NM_001002295.2
p.Q83L
c.248A>T
1 paper
NM_001002295.2
p.Q83fs
c.247_248fs
1 paper
NM_001002295.2
p.Q83*
c.247C>T
1 paper
NM_001002295.2
p.Q83_V84insFs
c.249_250insGT
1 paper
NM_001002295.2
p.V84M
c.250G>A
4 papers
NM_001002295.2
p.C85_R86insFs
c.255_256ins4
1 paper
NM_001002295.2
p.S82C
c.244A>T
1 paper
NM_001002295.2
p.V84V
c.252G>C
1 paper
NM_001002295.2
p.C85_R86insFs
c.255_256ins4
1 paper
NM_001002295.2
p.C85C
c.255C>T
1 paper
NM_001002295.2
p.G81Splc
c.242-2A>C
1 paper
NM_001002295.2
p.R86fs
c.256_257fs
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