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.G55S

c.163G>A

Surrounding Variants

1 paper

NM_005257.6

p.P54L

c.161C>T

2 papers

NM_005257.6

p.P54A

c.160C>G

1 paper

NM_005257.6

p.P54S

c.160C>T

1 paper

NM_005257.6

p.G56A

c.167G>C

1 paper

NM_005257.6

p.G53A

c.158G>C

1 paper

NM_005257.6

p.E51D

c.153G>C

15 papers

NM_005257.6

p.E51K

c.151G>A

1 paper

NM_005257.6

p.E51*

c.151G>T

1 paper

NM_005257.6

p.G61R

c.181G>A

1 paper

NM_005257.6

p.G61R

c.181G>C

2 papers

NM_005257.6

p.P63S

c.187C>T

1 paper

NM_005257.6

p.S43F

c.128C>T