Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.C288R

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.C288R
c.862T>C
Surrounding Variants
2 papers
NM_001002295.2
p.C288S
c.862T>A
1 paper
NM_001002295.2
p.C288fs
c.862_863fs
1 paper
NM_001002295.2
p.C288Y
c.863G>A
1 paper
NM_001002295.2
p.C288F
c.863G>T
1 paper
NM_001002295.2
p.A287D
c.860C>A
1 paper
NM_001002295.2
p.C288*
c.864C>A
2 papers
NM_001002295.2
p.G289insFs
c.865dupG
5 papers
NM_001002295.2
p.C288W
c.864C>G
1 paper
NM_001002295.2
p.C288C
c.864C>T
5 papers
NM_001002295.2
p.G289R
c.865G>A
3 papers
NM_001002295.2
p.A287T
c.859G>A
4 papers
NM_001002295.2
p.G289R
c.865G>C
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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."