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.A368T

c.1102G>A

Surrounding Variants

5 papers

NM_005257.6

p.L370_R374insFs

c.1108_1121dup14

3 papers

NM_005257.6

p.P369A

c.1105C>G

1 paper

NM_005257.6

p.P369S

c.1105C>T

5 papers

NM_005257.6

p.G367*

c.1099G>T

1 paper

NM_005257.6

p.A366A

c.1098C>T

2 papers

NM_005257.6

p.S364R

c.1092C>A

2 papers

NM_005257.6

p.S364R

c.1092C>G

1 paper

NM_005257.6

p.S364_R365insG

c.1090_1094ins3

2 papers

NM_005257.6

p.S364R

c.1090A>C

1 paper

NM_005257.6

p.Q363*

c.1087C>T

2 papers

NM_005257.6

p.Q363fs

c.1087_1088fs

2 papers

NM_005257.6

p.Q363_A366delFs

c.1088_1098del11