Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.S212F

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
2 papers
NM_001002295.2
p.S212F
c.635C>T
Surrounding Variants
1 paper
NM_001002295.2
p.S213fs
c.637_638fs
1 paper
NM_001002295.2
p.S213*
c.638C>A
1 paper
NM_001002295.2
p.S213L
c.638C>T
1 paper
NM_001002295.2
p.A211P
c.631G>C
1 paper
NM_001002295.2
p.A211fs
c.631_632fs
1 paper
NM_001002295.2
p.A211S
c.631G>T
1 paper
NM_001002295.2
p.S214L
c.641C>T
1 paper
NM_001002295.2
p.G210V
c.629G>T
1 paper
NM_001002295.2
p.G210R
c.628G>A
1 paper
NM_001002295.2
p.H216insFs
c.646dupC
1 paper
NM_001002295.2
p.T215N
c.644C>A
1 paper
NM_001002295.2
p.T215I
c.644C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."