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.N458S

c.1373A>G

Surrounding Variants

1 paper

NM_005257.6

p.N458N

c.1374C>T

2 papers

NM_005257.6

p.A459T

c.1375G>A

1 paper

NM_005257.6

p.A459delins

c.1376_1377delinsTT

1 paper

NM_005257.6

p.R457T

c.1370G>C

2 papers

NM_005257.6

p.R457G

c.1369A>G

8 papers

NM_005257.6

p.E460*

c.1378G>T

17 papers

NM_005257.6

p.R456H

c.1367G>A

6 papers

NM_005257.6

p.R456G

c.1366C>G

33 papers

NM_005257.6

p.R456C

c.1366C>T

1 paper

NM_005257.6

p.E462G

c.1385A>G

1 paper

NM_005257.6

p.P463L

c.1388C>T

14 papers

NM_005257.6

p.T452A

c.1354A>G