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

26 papers

NM_000069.3

p.R897S

c.2691G>C

Surrounding Variants

26 papers

NM_000069.3

p.R897S

c.2691G>T

5 papers

NM_000069.3

p.R897K

c.2690G>A

1 paper

NM_000069.3

p.R897G

c.2689A>G

13 papers

NM_000069.3

p.R900G

c.2698A>G

2 papers

NM_000069.3

p.R900M

c.2699G>T

34 papers

NM_000069.3

p.R900S

c.2700G>T

33 papers

NM_000069.3

p.R900S

c.2700G>C

1 paper

NM_000069.3

p.V893M

c.2677G>A

2 papers

NM_000069.3

p.R903*

c.2707C>T

1 paper

NM_000069.3

p.V892L

c.2674G>T

1 paper

NM_000069.3

p.V892L

c.2674G>C

1 paper

NM_000069.3

p.R903Q

c.2708G>A