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.E146D

c.438G>C

Surrounding Variants

1 paper

NM_005257.6

p.E146D

c.438G>T

2 papers

NM_005257.6

p.M147L

c.439A>C

2 papers

NM_005257.6

p.M147L

c.439A>T

1 paper

NM_005257.6

p.E146Q

c.436G>C

1 paper

NM_005257.6

p.Y148H

c.442T>C

7 papers

NM_005257.6

p.E142K

c.424G>A

1 paper

NM_005257.6

p.E142*

c.424G>T

7 papers

NM_005257.6

p.L151H

c.452T>A

1 paper

NM_005257.6

p.A153T

c.457G>A

2 papers

NM_005257.6

p.S156G

c.466A>G

1 paper

NM_005257.6

p.K135R

c.404A>G

1 paper

NM_005257.6

p.G158S

c.472G>A