Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.R306*

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.R306*
c.916C>T
Surrounding Variants
5 papers
NM_001002295.2
p.R306Q
c.917G>A
1 paper
NM_001002295.2
p.R306P
c.917G>C
2 papers
NM_001002295.2
p.R306L
c.917G>T
1 paper
NM_001002295.2
p.R306_R307insFs
c.918_919insG
1 paper
NM_001002295.2
p.R307insFs
c.920_921insGC
1 paper
NM_001002295.2
p.L308fs
c.922_923fs
1 paper
NM_001002295.2
p.L308insFs
c.923_924dupTG
1 paper
NM_001002295.2
p.P304S
c.910C>T
1 paper
NM_001002295.2
p.K303N
c.909G>C
1 paper
NM_001002295.2
p.K303N
c.909G>T
1 paper
NM_001002295.2
p.P304delFs
c.911delC
2 papers
NM_001002295.2
p.K303*
c.907A>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."