Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.C318fs

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
3 papers
NM_001002295.2
p.C318fs
c.952_953fs
Surrounding Variants
5 papers
NM_001002295.2
p.C318S
c.952T>A
15 papers
NM_001002295.2
p.C318R
c.952T>C
1 paper
NM_001002295.2
p.C318fs
c.952_953fs
1 paper
NM_001002295.2
p.C318_T325delFs
c.953_975del23
4 papers
NM_001002295.2
p.C318Y
c.953G>A
4 papers
NM_001002295.2
p.C318S
c.953G>C
1 paper
NM_001002295.2
p.C318_R331delFs
c.954_991del38
2 papers
NM_001002295.2
p.C318*
c.954T>A
3 papers
NM_001002295.2
p.S317delFs
c.951delC
2 papers
NM_001002295.2
p.A319E
c.956C>A
1 paper
NM_001002295.2
p.A319V
c.956C>T
1 paper
NM_001002295.2
p.T316insFs
c.947_948insT
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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."