Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.P223insFs

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.P223insFs
c.668_669insGT
Surrounding Variants
1 paper
NM_001002295.2
p.P223Q
c.668C>A
1 paper
NM_001002295.2
p.P224fs
c.670_671fs
1 paper
NM_001002295.2
p.P224fs
c.670_671fs
1 paper
NM_001002295.2
p.Y222insFs
c.666dupC
2 papers
NM_001002295.2
p.P224_E228delFs
c.670_682del13
1 paper
NM_001002295.2
p.P227_E228insFs
c.681_682ins35
2 papers
NM_001002295.2
p.Y222fs
c.664_665fs
1 paper
NM_001002295.2
p.T221N
c.662C>A
1 paper
NM_001002295.2
p.Y225*
c.675C>A
1 paper
NM_001002295.2
p.Y225*
c.675C>G
3 papers
NM_001002295.2
p.V226M
c.676G>A
1 paper
NM_001002295.2
p.V226insFs
c.677dupT
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