Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.S67L

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.S67L
c.200C>T
Surrounding Variants
1 paper
NM_001002295.2
p.S67*
c.200C>A
3 papers
NM_001002295.2
p.S67W
c.200C>G
1 paper
NM_001002295.2
p.N66K
c.198C>A
1 paper
NM_001002295.2
p.N66K
c.198C>G
1 paper
NM_001002295.2
p.N66T
c.197A>C
1 paper
NM_001002295.2
p.N66S
c.197A>G
1 paper
NM_001002295.2
p.N66I
c.197A>T
1 paper
NM_001002295.2
p.N66H
c.196A>C
1 paper
NM_001002295.2
p.N66D
c.196A>G
1 paper
NM_001002295.2
p.N66Y
c.196A>T
1 paper
NM_001002295.2
p.R69K
c.206G>A
3 papers
NM_001002295.2
p.Y64*
c.192C>A
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