Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.E260*

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.E260*
c.778G>T
Surrounding Variants
3 papers
NM_001002295.2
p.E260Splc
c.778+1G>A
1 paper
NM_001002295.2
p.E260Splc
c.778+2T>C
1 paper
NM_001002295.2
p.S258insFs
c.773_774insCA
1 paper
NM_001002295.2
p.S258fs
c.772_773fs
1 paper
NM_001002295.2
p.S257F
c.770C>T
1 paper
NM_001002295.2
p.R256R
c.768G>T
3 papers
NM_001002295.2
p.R256G
c.766C>G
1 paper
NM_001002295.2
p.A255T
c.763G>A
2 papers
NM_001002295.2
p.A255_R256ins4
c.763_767ins12
1 paper
NM_001002295.2
p.K254N
c.762G>C
1 paper
NM_001002295.2
p.K254N
c.762G>T
1 paper
NM_001002295.2
p.K254fs
c.760_761fs
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