Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.K347*

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.K347*
c.1039A>T
Surrounding Variants
1 paper
NM_001002295.2
p.K347fs
c.1039_1040fs
2 papers
NM_001002295.2
p.Y346*
c.1038C>A
2 papers
NM_001002295.2
p.Y346*
c.1038C>G
1 paper
NM_001002295.2
p.K347delFs
c.1040delA
1 paper
NM_001002295.2
p.K347N
c.1041G>C
1 paper
NM_001002295.2
p.K347N
c.1041G>T
2 papers
NM_001002295.2
p.L348insFs
c.1044dupT
19 papers
NM_001002295.2
p.L348V
c.1042C>G
1 paper
NM_001002295.2
p.L348F
c.1042C>T
2 papers
NM_001002295.2
p.Y346fs
c.1036_1037fs
1 paper
NM_001002295.2
p.Y345*
c.1035C>A
1 paper
NM_001002295.2
p.Y345_Y346insFs
c.1035_1036insT
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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."