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

1–12 of 131 variants

14 papers

NM_080473.5

p.S19W

c.56C>G

13 papers

NM_080473.5

p.Q3R

c.8A>G

12 papers

NM_080473.5

p.L233P

c.698T>C

9 papers

NM_080473.5

p.Y142H

c.424T>C

7 papers

NM_080473.5

p.G166S

c.496G>A

7 papers

NM_080473.5

p.T252P

c.754A>C

6 papers

NM_080473.5

p.Y16D

c.46T>G

6 papers

NM_080473.5

p.G240D

c.719G>A

6 papers

NM_080473.5

p.A266P

c.796G>C

6 papers

NM_080473.5

p.H274R

c.821A>G

5 papers

NM_080473.5

p.T67P

c.199A>C

5 papers

NM_080473.5

p.R132G

c.394C>G