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

1–12 of 463 variants

33 papers

NM_005257.6

p.S184N

c.551G>A

33 papers

NM_005257.6

p.R456C

c.1366C>T

17 papers

NM_005257.6

p.A178V

c.533C>T

17 papers

NM_005257.6

p.R456H

c.1367G>A

15 papers

NM_005257.6

p.E51K

c.151G>A

15 papers

NM_005257.6

p.N466H

c.1396A>C

14 papers

NM_005257.6

p.T452A

c.1354A>G

14 papers

NM_005257.6

p.N466D

c.1396A>G

13 papers

NM_005257.6

p.G15R

c.43G>A

13 papers

NM_005257.6

p.G15R

c.43G>C

13 papers

NM_005257.6

p.L198V

c.592C>G

11 papers

NM_005257.6

p.A467T

c.1399G>A