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.R374Q

c.1121G>A

Surrounding Variants

4 papers

NM_005257.6

p.G375fs

c.1123_1124fs

1 paper

NM_005257.6

p.G375fs

c.1123_1124fs

1 paper

NM_005257.6

p.S377G

c.1129A>G

1 paper

NM_005257.6

p.S377N

c.1130G>A

3 papers

NM_005257.6

p.P369A

c.1105C>G

1 paper

NM_005257.6

p.P369S

c.1105C>T

1 paper

NM_005257.6

p.A368T

c.1102G>A

5 papers

NM_005257.6

p.L370_R374insFs

c.1108_1121dup14

5 papers

NM_005257.6

p.G367*

c.1099G>T

1 paper

NM_005257.6

p.D379Splc

c.1135+9C>G

1 paper

NM_005257.6

p.A366A

c.1098C>T

2 papers

NM_005257.6

p.S364R

c.1092C>A