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.E278*

c.832G>T

Surrounding Variants

1 paper

NM_005257.6

p.E278G

c.833A>G

1 paper

NM_005257.6

p.P279S

c.835C>T

1 paper

NM_005257.6

p.A276S

c.826G>T

3 papers

NM_005257.6

p.G280A

c.839G>C

1 paper

NM_005257.6

p.A275S

c.823G>T

2 papers

NM_005257.6

p.N273K

c.819C>A

2 papers

NM_005257.6

p.N273K

c.819C>G

2 papers

NM_005257.6

p.N273S

c.818A>G

3 papers

NM_005257.6

p.A284G

c.851C>G

1 paper

NM_005257.6

p.A285A

c.855G>T

1 paper

NM_005257.6

p.P270S

c.808C>T

1 paper

NM_005257.6

p.G286D

c.857G>A