Varaico: Literature-Extracted Genetic Variants

PHKB

153 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, encoded by two different genes. The be...

Pfam Domains

Glyco_hydro_15aa 47–878UCSCGlycosyl hydrolases family 15

KPBB_Caa 898–1084UCSCPhosphorylase b kinase C-terminal domain

Gene Aliases

HGNC Name

phosphorylase kinase regulatory subunit beta

HGNC Previous Name

phosphorylase kinase, beta

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000293.3

p.S694*

c.2081C>A

Surrounding Variants

2 papers

NM_000293.3

p.S694*

c.2081C>G

1 paper

NM_000293.3

p.P703delFs

c.2109delT

1 paper

NM_000293.3

p.S704fs

c.2110_2111fs

1 paper

NM_000293.3

p.E678Splc

c.2034-2A>G

1 paper

NM_000293.3

p.E678Splc

c.2034-7T>G

1 paper

NM_000293.3

p.S717delFs

c.2151delT

2 papers

NM_000293.3

p.E726K

c.2176G>A

2 papers

NM_000293.3

p.I727delFs

c.2181delT

2 papers

NM_000293.3

p.L728fs

c.2182_2183fs

4 papers

NM_000293.3

p.N732S

c.2195A>G

4 papers

NM_000293.3

p.R672*

c.2014C>T

1 paper

NM_000293.3

p.L668_D669insA

c.2002_2006ins3