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

7 papers

NM_005257.6

p.Y323fs

c.967_968fs

Surrounding Variants

1 paper

NM_005257.6

p.Y323H

c.967T>C

3 papers

NM_005257.6

p.Y323insFs

c.968dupA

2 papers

NM_005257.6

p.Y323ins1

c.967_968insACC

1 paper

NM_005257.6

p.Y323fs

c.967_968fs

3 papers

NM_005257.6

p.H332_H333del1

c.996_998delCCA

1 paper

NM_005257.6

p.H331_H333del0

c.993_998del6

9 papers

NM_005257.6

p.Y323*

c.969C>A

9 papers

NM_005257.6

p.Y323*

c.969C>G

3 papers

NM_005257.6

p.T322_H324delFs

c.964_970del7

2 papers

NM_005257.6

p.H324Q

c.972C>A

2 papers

NM_005257.6

p.H324Q

c.972C>G

1 paper

NM_005257.6

p.H325P

c.974A>C