Varaico: Literature-Extracted Genetic Variants

Gene:GATA5
Variant:p.H274R

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
6 papers
NM_080473.5
p.H274R
c.821A>G
Surrounding Variants
1 paper
NM_080473.5
p.A266V
c.797C>T
6 papers
NM_080473.5
p.A266P
c.796G>C
1 paper
NM_080473.5
p.E261D
c.783G>T
1 paper
NM_080473.5
p.E261D
c.783G>C
1 paper
NM_080473.5
p.E261K
c.781G>A
1 paper
NM_080473.5
p.G260E
c.779G>A
2 papers
NM_080473.5
p.R256W
c.766C>T
1 paper
NM_080473.5
p.R256G
c.766C>G
1 paper
NM_080473.5
p.R255W
c.763C>T
7 papers
NM_080473.5
p.T252P
c.754A>C
1 paper
NM_080473.5
p.N250D
c.748A>G
1 paper
NM_080473.5
p.T248M
c.743C>T
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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."