Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.S238R

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.S238R
c.714C>A
Surrounding Variants
2 papers
NM_001002295.2
p.S238R
c.714C>G
2 papers
NM_001002295.2
p.S238R
c.712A>C
1 paper
NM_001002295.2
p.L239Q
c.716T>A
5 papers
NM_001002295.2
p.S237insFs
c.709_710insC
6 papers
NM_001002295.2
p.S237fs
c.709_710fs
10 papers
NM_001002295.2
p.S237fs
c.709_710fs
1 paper
NM_001002295.2
p.G241_G242delFs
c.721_724del4
1 paper
NM_001002295.2
p.P236_S237insFs
c.708_709insT
1 paper
NM_001002295.2
p.L240_G241delins
c.720_721delinsCT
5 papers
NM_001002295.2
p.P236R
c.707C>G
1 paper
NM_001002295.2
p.G241S
c.721G>A
1 paper
NM_001002295.2
p.G241C
c.721G>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."