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

2 papers

NM_005257.6

p.G469A

c.1406G>C

Surrounding Variants

11 papers

NM_005257.6

p.G469E

c.1406G>A

6 papers

NM_005257.6

p.G469V

c.1406G>T

1 paper

NM_005257.6

p.G469R

c.1405G>A

1 paper

NM_005257.6

p.G469R

c.1405G>C

2 papers

NM_005257.6

p.C468Y

c.1403G>A

1 paper

NM_005257.6

p.C468R

c.1402T>C

11 papers

NM_005257.6

p.A467T

c.1399G>A

6 papers

NM_005257.6

p.N466S

c.1397A>G

1 paper

NM_005257.6

p.M472R

c.1415T>G

15 papers

NM_005257.6

p.N466H

c.1396A>C

14 papers

NM_005257.6

p.N466D

c.1396A>G

10 papers

NM_005257.6

p.K473Q

c.1417A>C