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

10 papers

NM_005257.6

p.G220S

c.658G>A

Surrounding Variants

1 paper

NM_005257.6

p.G220C

c.658G>T

1 paper

NM_005257.6

p.H222fs

c.664_665fs

1 paper

NM_005257.6

p.A216A

c.648G>A

1 paper

NM_005257.6

p.A216S

c.646G>T

1 paper

NM_005257.6

p.P226fs

c.676_677fs

1 paper

NM_005257.6

p.P226H

c.677C>A

1 paper

NM_005257.6

p.P226L

c.677C>T

1 paper

NM_005257.6

p.A213S

c.637G>T

1 paper

NM_005257.6

p.Q227L

c.680A>T

7 papers

NM_005257.6

p.P212fs

c.634_635fs

1 paper

NM_005257.6

p.G211R

c.631G>A

5 papers

NM_005257.6

p.P212_G220delFs

c.635_660del26