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.V293_S294Fs

c.877_880delinsTACFs

Surrounding Variants

5 papers

NM_005257.6

p.V293fs

c.877_878fs

1 paper

NM_005257.6

p.S294R

c.880A>C

1 paper

NM_005257.6

p.G292C

c.874G>T

1 paper

NM_005257.6

p.S294R

c.882C>A

1 paper

NM_005257.6

p.S294R

c.882C>G

1 paper

NM_005257.6

p.G295S

c.883G>A

1 paper

NM_005257.6

p.G291*

c.871G>T

1 paper

NM_005257.6

p.G295D

c.884G>A

4 papers

NM_005257.6

p.G296S

c.886G>A

2 papers

NM_005257.6

p.G296C

c.886G>T

1 paper

NM_005257.6

p.A290S

c.868G>T

1 paper

NM_005257.6

p.G296D

c.887G>A