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.G304delFs

c.911delG

Surrounding Variants

1 paper

NM_005257.6

p.G304fs

c.910_911fs

4 papers

NM_005257.6

p.A302fs

c.904_905fs

1 paper

NM_005257.6

p.A301V

c.902C>T

1 paper

NM_005257.6

p.R306H

c.917G>A

1 paper

NM_005257.6

p.R306L

c.917G>T

4 papers

NM_005257.6

p.L300_A301insFs

c.899_902dup4

1 paper

NM_005257.6

p.E307G

c.920A>G

1 paper

NM_005257.6

p.S299N

c.896G>A

1 paper

NM_005257.6

p.S299G

c.895A>G

1 paper

NM_005257.6

p.P308fs

c.922_923fs

1 paper

NM_005257.6

p.S299del1

c.895_896delAGC

1 paper

NM_005257.6

p.S298_S299del1

c.894_896delTAG