Varaico: Literature-Extracted Genetic Variants

PHKA2

233 papers

RefSeq Summary

Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by ...

Pfam Domains

Glyco_hydro_15aa 8–919UCSCGlycosyl hydrolases family 15

KPBB_Caa 1036–1225UCSCPhosphorylase b kinase C-terminal domain

Gene Aliases

HGNC Name

phosphorylase kinase regulatory subunit alpha 2

HGNC Previous Symbols

PHK; PYK

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000292.3

p.P1205Q

c.3614C>A

Surrounding Variants

30 papers

NM_000292.3

p.P1205L

c.3614C>T

6 papers

NM_000292.3

p.G1207W

c.3619G>T

1 paper

NM_000292.3

p.G1207R

c.3619G>C

1 paper

NM_000292.3

p.G1207R

c.3619G>A

1 paper

NM_000292.3

p.Y1201_D1202insFs

c.3603_3606dup4

1 paper

NM_000292.3

p.D1202E

c.3606C>G

1 paper

NM_000292.3

p.D1202E

c.3606C>A

1 paper

NM_000292.3

p.Y1201H

c.3601T>C

2 papers

NM_000292.3

p.G1210R

c.3628G>C

2 papers

NM_000292.3

p.G1210R

c.3628G>A

1 paper

NM_000292.3

p.F1199_F1200delFs

c.3597_3598delAG

6 papers

NM_000292.3

p.G1210E

c.3629G>A