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

3 papers

NM_005257.6

p.V358fs

c.1072_1073fs

Surrounding Variants

5 papers

NM_005257.6

p.V358fs

c.1072_1073fs

3 papers

NM_005257.6

p.P357delFs

c.1071delG

1 paper

NM_005257.6

p.E355*

c.1063G>T

2 papers

NM_005257.6

p.Q363_A366delFs

c.1088_1098del11

1 paper

NM_005257.6

p.Q363*

c.1087C>T

2 papers

NM_005257.6

p.Q363fs

c.1087_1088fs

1 paper

NM_005257.6

p.S364_R365insG

c.1090_1094ins3

2 papers

NM_005257.6

p.S364R

c.1090A>C

2 papers

NM_005257.6

p.G352R

c.1054G>A

2 papers

NM_005257.6

p.G352R

c.1054G>C

1 paper

NM_005257.6

p.A351_G352insFs

c.1053_1054insG

2 papers

NM_005257.6

p.S364R

c.1092C>A