Varaico: Literature-Extracted Genetic Variants

GATA6

404 papers

RefSeq Summary

This gene is a member of a small family of zinc finger transcription factors that play an important role in the regulation of cellular differentiation and organogenesis during vertebrate development. ...

Pfam Domains

GATA-Naa 147–378UCSCGATA-type transcription activator, N-terminal

GATAaa 390–424UCSCGATA zinc finger

GATAaa 444–478UCSCGATA zinc finger

Gene Aliases

HGNC Name

GATA binding protein 6

HGNC Previous Name

GATA-binding protein 6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005257.6

p.D231H

c.691G>C

Surrounding Variants

3 papers

NM_005257.6

p.S232fs

c.694_695fs

5 papers

NM_005257.6

p.P234delFs

c.701delC

5 papers

NM_005257.6

p.P234fs

c.700_701fs

1 paper

NM_005257.6

p.Q227L

c.680A>T

2 papers

NM_005257.6

p.Y235fs

c.703_704fs

4 papers

NM_005257.6

p.Y235S

c.704A>C

2 papers

NM_005257.6

p.Y235*

c.705C>A

1 paper

NM_005257.6

p.P226H

c.677C>A

2 papers

NM_005257.6

p.Y235*

c.705C>G

1 paper

NM_005257.6

p.P226L

c.677C>T

1 paper

NM_005257.6

p.P226fs

c.676_677fs

2 papers

NM_005257.6

p.G236C

c.706G>T