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.S338P

c.1012T>C

Surrounding Variants

1 paper

NM_005257.6

p.S338*

c.1013C>A

4 papers

NM_005257.6

p.Y337fs

c.1009_1010fs

1 paper

NM_005257.6

p.Y337delFs

c.1010delA

1 paper

NM_005257.6

p.P339L

c.1016C>T

1 paper

NM_005257.6

p.Y340D

c.1018T>G

1 paper

NM_005257.6

p.H333P

c.998A>C

3 papers

NM_005257.6

p.A343T

c.1027G>A

6 papers

NM_005257.6

p.H333del1

c.997_998delCAT

1 paper

NM_005257.6

p.H332N

c.994C>A

6 papers

NM_005257.6

p.T346_A348delFs

c.1036_1042del7

1 paper

NM_005257.6

p.H330Q

c.990C>A

1 paper

NM_005257.6

p.H330Q

c.990C>G