Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.L130V

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.L130V
c.388C>G
Surrounding Variants
2 papers
NM_001002295.2
p.P129S
c.385C>T
1 paper
NM_001002295.2
p.S131fs
c.391_392fs
1 paper
NM_001002295.2
p.S131fs
c.391_392fs
1 paper
NM_001002295.2
p.S131F
c.392C>T
1 paper
NM_001002295.2
p.V132I
c.394G>A
2 papers
NM_001002295.2
p.G128W
c.382G>T
1 paper
NM_001002295.2
p.P127P
c.381G>A
1 paper
NM_001002295.2
p.P127Q
c.380C>A
1 paper
NM_001002295.2
p.P127L
c.380C>T
1 paper
NM_001002295.2
p.P127T
c.379C>A
2 papers
NM_001002295.2
p.P127fs
c.379_380fs
2 papers
NM_001002295.2
p.P127delFs
c.380_381delCG
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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."