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.A161T

c.481G>A

Surrounding Variants

1 paper

NM_005257.6

p.P159L

c.476C>T

1 paper

NM_005257.6

p.P159S

c.475C>T

1 paper

NM_005257.6

p.G158S

c.472G>A

1 paper

NM_005257.6

p.G158C

c.472G>T

2 papers

NM_005257.6

p.S156G

c.466A>G

1 paper

NM_005257.6

p.A153T

c.457G>A

1 paper

NM_005257.6

p.V170fs

c.508_509fs

7 papers

NM_005257.6

p.L151H

c.452T>A

1 paper

NM_005257.6

p.H171insFs

c.512_513insGC

1 paper

NM_005257.6

p.A177_A182del0

c.531_545del15

1 paper

NM_005257.6

p.Y148H

c.442T>C

2 papers

NM_005257.6

p.M147L

c.439A>C