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.E462G

c.1385A>G

Surrounding Variants

1 paper

NM_005257.6

p.P463L

c.1388C>T

8 papers

NM_005257.6

p.E460*

c.1378G>T

1 paper

NM_005257.6

p.A459delins

c.1376_1377delinsTT

2 papers

NM_005257.6

p.A459T

c.1375G>A

15 papers

NM_005257.6

p.N466H

c.1396A>C

14 papers

NM_005257.6

p.N466D

c.1396A>G

1 paper

NM_005257.6

p.N458N

c.1374C>T

6 papers

NM_005257.6

p.N466S

c.1397A>G

1 paper

NM_005257.6

p.N458S

c.1373A>G

11 papers

NM_005257.6

p.A467T

c.1399G>A

1 paper

NM_005257.6

p.R457T

c.1370G>C

2 papers

NM_005257.6

p.R457G

c.1369A>G