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.V434_P435Splc

c.1303-6T>C

Surrounding Variants

2 papers

NM_005257.6

p.V434_P435Splc

c.1303-2A>G

9 papers

NM_005257.6

p.V434_P435Splc

c.1303-10C>G

7 papers

NM_005257.6

p.V434_P435Splc

c.1303-1G>T

1 paper

NM_005257.6

p.S436*

c.1307C>A

1 paper

NM_005257.6

p.S436*

c.1307C>G

1 paper

NM_005257.6

p.S436L

c.1307C>T

1 paper

NM_005257.6

p.R439W

c.1315C>T

1 paper

NM_005257.6

p.R439Q

c.1316G>A

6 papers

NM_005257.6

p.G441*

c.1321G>T

5 papers

NM_005257.6

p.C444R

c.1330T>C

1 paper

NM_005257.6

p.N446S

c.1337A>G

1 paper

NM_005257.6

p.N446K

c.1338C>A