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

2 papers

NM_005257.6

p.L118F

c.352C>T

Surrounding Variants

1 paper

NM_005257.6

p.D117E

c.351C>A

1 paper

NM_005257.6

p.D117E

c.351C>G

1 paper

NM_005257.6

p.L118L

c.354C>T

1 paper

NM_005257.6

p.D119E

c.357C>A

3 papers

NM_005257.6

p.Q120*

c.358C>T

1 paper

NM_005257.6

p.L112W

c.335T>G

1 paper

NM_005257.6

p.D111delFs

c.333delC

3 papers

NM_005257.6

p.D111N

c.331G>A

1 paper

NM_005257.6

p.W109L

c.326G>T

1 paper

NM_005257.6

p.L106P

c.317T>C

1 paper

NM_005257.6

p.R132S

c.394C>A

3 papers

NM_005257.6

p.R132G

c.394C>G