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.A181A

c.543G>A

Surrounding Variants

1 paper

NM_005257.6

p.A182V

c.545C>T

33 papers

NM_005257.6

p.S184N

c.551G>A

1 paper

NM_005257.6

p.A178E

c.533C>A

17 papers

NM_005257.6

p.A178V

c.533C>T

1 paper

NM_005257.6

p.A178_A183del0

c.534_548del15

4 papers

NM_005257.6

p.A177T

c.529G>A

1 paper

NM_005257.6

p.A176P

c.526G>C

1 paper

NM_005257.6

p.A177_A182del0

c.531_545del15

1 paper

NM_005257.6

p.P190L

c.569C>T

1 paper

NM_005257.6

p.H171insFs

c.512_513insGC

1 paper

NM_005257.6

p.V170fs

c.508_509fs

1 paper

NM_005257.6

p.R193R

c.579C>G