Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.Y283*

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.Y283*
c.849C>G
Surrounding Variants
1 paper
NM_001002295.2
p.Y283*
c.849C>A
1 paper
NM_001002295.2
p.Y283Y
c.849C>T
1 paper
NM_001002295.2
p.L284R
c.851T>G
1 paper
NM_001002295.2
p.Y283fs
c.847_848fs
2 papers
NM_001002295.2
p.H282R
c.845A>G
1 paper
NM_001002295.2
p.H282Y
c.844C>T
3 papers
NM_001002295.2
p.C285Y
c.854G>A
1 paper
NM_001002295.2
p.C285W
c.855C>G
4 papers
NM_001002295.2
p.N286D
c.856A>G
13 papers
NM_001002295.2
p.N286T
c.857A>C
2 papers
NM_001002295.2
p.T280M
c.839C>T
3 papers
NM_001002295.2
p.A287T
c.859G>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."