Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.L97M

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
2 papers
NM_001002295.2
p.L97M
c.289C>A
Surrounding Variants
2 papers
NM_001002295.2
p.W96*
c.288G>A
2 papers
NM_001002295.2
p.W96*
c.287G>A
3 papers
NM_001002295.2
p.W96fs
c.286_287fs
1 paper
NM_001002295.2
p.D98insFs
c.293_294insC
1 paper
NM_001002295.2
p.D98G
c.293A>G
5 papers
NM_001002295.2
p.W96delFs
c.286delT
1 paper
NM_001002295.2
p.P95T
c.283C>A
1 paper
NM_001002295.2
p.P95S
c.283C>T
3 papers
NM_001002295.2
p.G99S
c.295G>A
1 paper
NM_001002295.2
p.L94insFs
c.282dupA
1 paper
NM_001002295.2
p.L94I
c.280C>A
1 paper
NM_001002295.2
p.S93_L97delins
c.278_289delinsCCGCCTCCT
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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."