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

13 papers

NM_005257.6

p.L198V

c.592C>G

Surrounding Variants

1 paper

NM_005257.6

p.M197_H204delFs

c.590_612del23

1 paper

NM_005257.6

p.G200D

c.599G>A

1 paper

NM_005257.6

p.G200V

c.599G>T

4 papers

NM_005257.6

p.P202_Y203insFs

c.606_609dup4

1 paper

NM_005257.6

p.P202Q

c.605C>A

1 paper

NM_005257.6

p.R193R

c.579C>G

4 papers

NM_005257.6

p.H204fs

c.610_611fs

1 paper

NM_005257.6

p.H204_L205delFs

c.611_614del4

1 paper

NM_005257.6

p.L205M

c.613C>A

1 paper

NM_005257.6

p.L205P

c.614T>C

1 paper

NM_005257.6

p.P190L

c.569C>T

5 papers

NM_005257.6

p.Q206P

c.617A>C