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.L205M

c.613C>A

Surrounding Variants

1 paper

NM_005257.6

p.L205P

c.614T>C

4 papers

NM_005257.6

p.H204fs

c.610_611fs

1 paper

NM_005257.6

p.H204_L205delFs

c.611_614del4

5 papers

NM_005257.6

p.Q206P

c.617A>C

1 paper

NM_005257.6

p.Q206_G207insFs

c.618_619ins4

2 papers

NM_005257.6

p.G207_A216delFs

c.620_647del28

1 paper

NM_005257.6

p.P202Q

c.605C>A

2 papers

NM_005257.6

p.G207G

c.621G>C

4 papers

NM_005257.6

p.P202_Y203insFs

c.606_609dup4

2 papers

NM_005257.6

p.S208fs

c.622_623fs

1 paper

NM_005257.6

p.G209R

c.625G>C

1 paper

NM_005257.6

p.G200D

c.599G>A