Varaico: Literature-Extracted Genetic Variants

PHKA1

122 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 skeletal muscle isoform is enc...

Pfam Domains

Glyco_hydro_15aa 8–922UCSCGlycosyl hydrolases family 15

KPBB_Caa 1050–1195UCSCPhosphorylase b kinase C-terminal domain

Gene Aliases

HGNC Name

phosphorylase kinase regulatory subunit alpha 1

HGNC Previous Name

phosphorylase kinase, alpha 1 (muscle)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_002637.4

p.Y511*

c.1533T>A

Surrounding Variants

5 papers

NM_002637.4

p.Y511*

c.1533T>G

1 paper

NM_002637.4

p.Y511insFs

c.1531dupT

1 paper

NM_002637.4

p.L510_Y511delFs

c.1530_1531delAG

1 paper

NM_002637.4

p.I517V

c.1549A>G

1 paper

NM_002637.4

p.M502V

c.1504A>G

1 paper

NM_002637.4

p.P498L

c.1493C>T

2 papers

NM_002637.4

p.L534fs

c.1600_1601fs

2 papers

NM_002637.4

p.L534delFs

c.1601delA

1 paper

NM_002637.4

p.R555W

c.1663C>T

1 paper

NM_002637.4

p.I562S

c.1685T>G

1 paper

NM_002637.4

p.I566N

c.1697T>A

1 paper

NM_002637.4

p.P475A

c.1423C>G