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.L313L

c.937C>T

Surrounding Variants

1 paper

NM_005257.6

p.S311N

c.932G>A

1 paper

NM_005257.6

p.A315T

c.943G>A

3 papers

NM_005257.6

p.R317_P318insFs

c.951_954dup4

1 paper

NM_005257.6

p.P308fs

c.922_923fs

1 paper

NM_005257.6

p.E307G

c.920A>G

3 papers

NM_005257.6

p.L319fs

c.955_956fs

1 paper

NM_005257.6

p.L319P

c.956T>C

1 paper

NM_005257.6

p.R306H

c.917G>A

1 paper

NM_005257.6

p.R306L

c.917G>T

1 paper

NM_005257.6

p.N320delFs

c.960delC

1 paper

NM_005257.6

p.N320K

c.960C>A

1 paper

NM_005257.6

p.N320K

c.960C>G