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

6 papers

NM_005257.6

p.P91S

c.271C>T

Surrounding Variants

1 paper

NM_005257.6

p.P91P

c.273C>A

1 paper

NM_005257.6

p.A90V

c.269C>T

3 papers

NM_005257.6

p.G89R

c.265G>A

3 papers

NM_005257.6

p.G89R

c.265G>C

2 papers

NM_005257.6

p.G93A

c.278G>C

1 paper

NM_005257.6

p.G98R

c.292G>C

4 papers

NM_005257.6

p.V99D

c.296T>A

3 papers

NM_005257.6

p.V99A

c.296T>C

1 paper

NM_005257.6

p.P102P

c.306C>G

1 paper

NM_005257.6

p.L79P

c.236T>C

2 papers

NM_005257.6

p.L79R

c.236T>G

2 papers

NM_005257.6

p.G103E

c.308G>A