Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.H13Q

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.H13Q
c.39C>G
Surrounding Variants
1 paper
NM_001002295.2
p.H13P
c.38A>C
2 papers
NM_001002295.2
p.H14P
c.41A>C
2 papers
NM_001002295.2
p.S12N
c.35G>A
3 papers
NM_001002295.2
p.S12I
c.35G>T
2 papers
NM_001002295.2
p.H15del1
c.43_44delCAC
1 paper
NM_001002295.2
p.H15P
c.44A>C
2 papers
NM_001002295.2
p.P16delFs
c.48delC
4 papers
NM_001002295.2
p.S12delFs
c.35delG
4 papers
NM_001002295.2
p.S12delFs
c.35_36delGC
1 paper
NM_001002295.2
p.S12fs
c.34_35fs
1 paper
NM_001002295.2
p.P16T
c.46C>A
1 paper
NM_001002295.2
p.V11E
c.32T>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."