Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.R74fs

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.R74fs
c.220_221fs
Surrounding Variants
1 paper
NM_001002295.2
p.Q73L
c.218A>T
1 paper
NM_001002295.2
p.Y75H
c.223T>C
1 paper
NM_001002295.2
p.Y75*
c.225C>A
1 paper
NM_001002295.2
p.Y75*
c.225C>G
1 paper
NM_001002295.2
p.T71M
c.212C>T
1 paper
NM_001002295.2
p.P77_T78insT
c.229_233ins3
1 paper
NM_001002295.2
p.P77R
c.230C>G
1 paper
NM_001002295.2
p.A70V
c.209C>T
4 papers
NM_001002295.2
p.H79delFs
c.235delC
1 paper
NM_001002295.2
p.A70T
c.208G>A
1 paper
NM_001002295.2
p.T78N
c.233C>A
1 paper
NM_001002295.2
p.T78T
c.234C>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."