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

5 papers

NM_005257.6

p.C447R

c.1339T>C

Surrounding Variants

1 paper

NM_005257.6

p.N446K

c.1338C>A

1 paper

NM_005257.6

p.N446K

c.1338C>G

5 papers

NM_005257.6

p.C447Y

c.1340G>A

1 paper

NM_005257.6

p.N446S

c.1337A>G

1 paper

NM_005257.6

p.H448fs

c.1342_1343fs

5 papers

NM_005257.6

p.C444R

c.1330T>C

14 papers

NM_005257.6

p.T452A

c.1354A>G

6 papers

NM_005257.6

p.G441*

c.1321G>T

1 paper

NM_005257.6

p.R439Q

c.1316G>A

1 paper

NM_005257.6

p.R439W

c.1315C>T

6 papers

NM_005257.6

p.R456G

c.1366C>G

33 papers

NM_005257.6

p.R456C

c.1366C>T