Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.R330fs

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
17 papers
NM_001002295.2
p.R330fs
c.988_989fs
Surrounding Variants
3 papers
NM_001002295.2
p.R330insFs
c.990dupG
3 papers
NM_001002295.2
p.R330delFs
c.989_990delGG
3 papers
NM_001002295.2
p.R330fs
c.988_989fs
2 papers
NM_001002295.2
p.W329*
c.987G>A
2 papers
NM_001002295.2
p.R330K
c.989G>A
3 papers
NM_001002295.2
p.R330insFs
c.988dupA
1 paper
NM_001002295.2
p.R330insFs
c.989_990insA
1 paper
NM_001002295.2
p.R330M
c.989G>T
1 paper
NM_001002295.2
p.W329*
c.986G>A
1 paper
NM_001002295.2
p.W329insFs
c.986_987ins5
2 papers
NM_001002295.2
p.W329L
c.986G>T
1 paper
NM_001002295.2
p.R331_D336delFs
c.991_1007del17
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