Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.P227delFs

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
3 papers
NM_001002295.2
p.P227delFs
c.681delC
Surrounding Variants
1 paper
NM_001002295.2
p.P227insFs
c.681dupC
2 papers
NM_001002295.2
p.P227fs
c.679_680fs
1 paper
NM_001002295.2
p.V226E
c.677T>A
1 paper
NM_001002295.2
p.V226A
c.677T>C
3 papers
NM_001002295.2
p.V226M
c.676G>A
1 paper
NM_001002295.2
p.V226insFs
c.677dupT
1 paper
NM_001002295.2
p.Y225*
c.675C>A
1 paper
NM_001002295.2
p.P227_E228ins5
c.681_682ins15
1 paper
NM_001002295.2
p.Y225*
c.675C>G
1 paper
NM_001002295.2
p.P227P
c.681C>G
1 paper
NM_001002295.2
p.E228Q
c.682G>C
2 papers
NM_001002295.2
p.E228fs
c.682_683fs
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