Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.G246A

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.G246A
c.737G>C
Surrounding Variants
1 paper
NM_001002295.2
p.G246_F247insFs
c.738_739insG
5 papers
NM_001002295.2
p.G246Fs
c.736delinsATFs
1 paper
NM_001002295.2
p.G246R
c.736G>C
3 papers
NM_001002295.2
p.G246fs
c.736_737fs
2 papers
NM_001002295.2
p.G246insFs
c.737_738insG
1 paper
NM_001002295.2
p.F247fs
c.739_740fs
1 paper
NM_001002295.2
p.G248R
c.742G>A
1 paper
NM_001002295.2
p.G248R
c.742G>C
7 papers
NM_001002295.2
p.G248*
c.742G>T
1 paper
NM_001002295.2
p.G248E
c.743G>A
1 paper
NM_001002295.2
p.C249_K250insGT
c.745_749ins6
1 paper
NM_001002295.2
p.C249*
c.747C>A
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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."