Varaico: Literature-Extracted Genetic Variants

CACNA1S

752 papers

RefSeq Summary

This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic pe...

Pfam Domains

Ion_transaa 50–345UCSCIon transport protein

Ion_transaa 431–672UCSCIon transport protein

Ion_transaa 798–1076UCSCIon transport protein

Ion_transaa 1117–1392UCSCIon transport protein

GPHHaa 1401–1454UCSCVoltage-dependent L-type calcium channel, IQ-associated

Ca_chan_IQaa 1464–1538UCSCVoltage gated calcium channel IQ domain

Gene Aliases

HGNC Name

calcium voltage-gated channel subunit alpha1 S

HGNC Previous Symbols

HOKPP; MHS5; CACNL1A3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000069.3

p.L139M

c.415C>A

Surrounding Variants

1 paper

NM_000069.3

p.E140*

c.418G>T

2 papers

NM_000069.3

p.V142I

c.424G>A

1 paper

NM_000069.3

p.T136S

c.406A>T

1 paper

NM_000069.3

p.G133W

c.397G>T

1 paper

NM_000069.3

p.G133Splc

c.399-6T>C

1 paper

NM_000069.3

p.H148L

c.443A>T

1 paper

NM_000069.3

p.T149A

c.445A>G

1 paper

NM_000069.3

p.P151Q

c.452C>A

1 paper

NM_000069.3

p.M152L

c.454A>T

1 paper

NM_000069.3

p.M152L

c.454A>C

1 paper

NM_000069.3

p.M152insFs

c.455_456insC

1 paper

NM_000069.3

p.S154G

c.460A>G