Varaico: Literature-Extracted Genetic Variants

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

5 papers

NM_080473.5

p.L199V

c.595C>G

Surrounding Variants

5 papers

NM_080473.5

p.W200G

c.598T>G

1 paper

NM_080473.5

p.T197T

c.591A>G

1 paper

NM_080473.5

p.R201C

c.601C>T

1 paper

NM_080473.5

p.R201insFs

c.602dupG

4 papers

NM_080473.5

p.R202Q

c.605G>A

2 papers

NM_080473.5

p.D203D

c.609C>T

2 papers

NM_080473.5

p.D203E

c.609C>G

2 papers

NM_080473.5

p.D203E

c.609C>A

1 paper

NM_080473.5

p.T205P

c.613A>C

1 paper

NM_080473.5

p.G206R

c.616G>C

1 paper

NM_080473.5

p.G206S

c.616G>A

1 paper

NM_080473.5

p.G206A

c.617G>C