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.G72R

c.214G>A

Surrounding Variants

1 paper

NM_005257.6

p.G72R

c.214G>C

1 paper

NM_005257.6

p.G72*

c.214G>T

1 paper

NM_005257.6

p.A71V

c.212C>T

1 paper

NM_005257.6

p.P73T

c.217C>A

3 papers

NM_005257.6

p.P73L

c.218C>T

2 papers

NM_005257.6

p.P74P

c.222G>A

1 paper

NM_005257.6

p.A69S

c.205G>T

4 papers

NM_005257.6

p.E68V

c.203A>T

2 papers

NM_005257.6

p.T67P

c.199A>C

1 paper

NM_005257.6

p.L79P

c.236T>C

2 papers

NM_005257.6

p.L79R

c.236T>G

2 papers

NM_005257.6

p.P63S

c.187C>T