Varaico: Literature-Extracted Genetic Variants

Gene:GATA5
Variant:p.A14V

GATA5

126 papers

RefSeq Summary

The protein encoded by this gene is a transcription factor that contains two GATA-type zinc fingers. The encoded protein is known to bind to hepatocyte nuclear factor-1alpha (HNF-1alpha), and this int...

Pfam Domains

GATA-Naa 1–176UCSCGATA-type transcription activator, N-terminal
GATAaa 189–223UCSCGATA zinc finger
GATAaa 243–277UCSCGATA zinc finger

Gene Aliases

HGNC Name

GATA binding protein 5

HGNC Alias Symbols

bB379O24.1; GATAS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_080473.5
p.A14V
c.41C>T
Surrounding Variants
3 papers
NM_080473.5
p.A14P
c.40G>C
1 paper
NM_080473.5
p.A15P
c.43G>C
1 paper
NM_080473.5
p.Q13R
c.38A>G
6 papers
NM_080473.5
p.Y16D
c.46T>G
1 paper
NM_080473.5
p.D18H
c.52G>C
14 papers
NM_080473.5
p.S19W
c.56C>G
1 paper
NM_080473.5
p.A6V
c.17C>T
13 papers
NM_080473.5
p.Q3R
c.8A>G
1 paper
NM_080473.5
p.M1delins
c.3delinsTTTTAGATCCATATTTTAG
1 paper
NM_080473.5
p.M1T
c.2T>C
1 paper
NM_080473.5
p.A28V
c.83C>T
1 paper
NM_080473.5
p.P31P
c.93G>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."