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

2 papers

NM_080473.5

p.M32R

c.95T>G

Surrounding Variants

1 paper

NM_080473.5

p.P31P

c.93G>A

1 paper

NM_080473.5

p.P35Q

c.104C>A

1 paper

NM_080473.5

p.P36S

c.106C>T

1 paper

NM_080473.5

p.A28V

c.83C>T

1 paper

NM_080473.5

p.A37G

c.110C>G

1 paper

NM_080473.5

p.V39L

c.115G>C

1 paper

NM_080473.5

p.P40R

c.119C>G

1 paper

NM_080473.5

p.P40insFs

c.119_120insA

1 paper

NM_080473.5

p.S41S

c.123G>A

1 paper

NM_080473.5

p.M42_L43insFs

c.126_127insAA

14 papers

NM_080473.5

p.S19W

c.56C>G

1 paper

NM_080473.5

p.D18H

c.52G>C