Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.H217_P218Fs

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.H217_P218Fs
c.649_653delinsAAAFs
Surrounding Variants
2 papers
NM_001002295.2
p.H217fs
c.649_650fs
1 paper
NM_001002295.2
p.H217Q
c.651C>G
1 paper
NM_001002295.2
p.H216fs
c.646_647fs
1 paper
NM_001002295.2
p.P218fs
c.652_653fs
1 paper
NM_001002295.2
p.P218insFs
c.653_654insT
1 paper
NM_001002295.2
p.T215N
c.644C>A
1 paper
NM_001002295.2
p.T215I
c.644C>T
1 paper
NM_001002295.2
p.H216insFs
c.646dupC
1 paper
NM_001002295.2
p.S214L
c.641C>T
1 paper
NM_001002295.2
p.T220P
c.658A>C
1 paper
NM_001002295.2
p.T220_P223delFs
c.659_668del10
1 paper
NM_001002295.2
p.S213*
c.638C>A
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