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.S45_C46del1

c.134_136delCCT

Surrounding Variants

1 paper

NM_005257.6

p.S42_S43insFs

c.126_127insAA

1 paper

NM_005257.6

p.S43F

c.128C>T

1 paper

NM_005257.6

p.S40insFs

c.119_120insA

1 paper

NM_005257.6

p.S37F

c.110C>T

1 paper

NM_005257.6

p.P36R

c.107C>G

1 paper

NM_005257.6

p.P36S

c.106C>T

1 paper

NM_005257.6

p.P35R

c.104C>G

1 paper

NM_005257.6

p.P35L

c.104C>T

1 paper

NM_005257.6

p.T34K

c.101C>A

1 paper

NM_005257.6

p.T34M

c.101C>T

15 papers

NM_005257.6

p.E51K

c.151G>A

1 paper

NM_005257.6

p.E51*

c.151G>T