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

3 papers

NM_080473.5

p.F159L

c.477C>G

Surrounding Variants

4 papers

NM_080473.5

p.F159L

c.477C>A

4 papers

NM_080473.5

p.F159L

c.475T>C

1 paper

NM_080473.5

p.G161S

c.481G>A

1 paper

NM_080473.5

p.P158S

c.472C>T

1 paper

NM_080473.5

p.G157R

c.469G>C

1 paper

NM_080473.5

p.G157R

c.469G>A

7 papers

NM_080473.5

p.G166S

c.496G>A

1 paper

NM_080473.5

p.R170C

c.508C>T

1 paper

NM_080473.5

p.R170fs

c.508_509fs

1 paper

NM_080473.5

p.R171insFs

c.512_513insGC

1 paper

NM_080473.5

p.P143A

c.427C>G

9 papers

NM_080473.5

p.Y142H

c.424T>C