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.S260L

c.779C>T

Surrounding Variants

1 paper

NM_005257.6

p.S260*

c.779C>A

1 paper

NM_005257.6

p.V259I

c.775G>A

2 papers

NM_005257.6

p.H258Q

c.774C>A

2 papers

NM_005257.6

p.H258Q

c.774C>G

2 papers

NM_005257.6

p.R262H

c.785G>A

1 paper

NM_005257.6

p.H258fs

c.772_773fs

1 paper

NM_005257.6

p.A256A

c.768G>T

1 paper

NM_005257.6

p.A255A

c.765C>T

7 papers

NM_005257.6

p.Y265*

c.795C>A

7 papers

NM_005257.6

p.Y265*

c.795C>G

1 paper

NM_005257.6

p.S254P

c.760T>C

1 paper

NM_005257.6

p.A252D

c.755C>A