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

2 papers

NM_000069.3

p.L873delFs

c.2618delA

Surrounding Variants

1 paper

NM_000069.3

p.L873L

c.2619G>A

1 paper

NM_000069.3

p.L873R

c.2618T>G

2 papers

NM_000069.3

p.L873fs

c.2617_2618fs

1 paper

NM_000069.3

p.L873L

c.2617C>T

26 papers

NM_000069.3

p.V876E

c.2627T>A

1 paper

NM_000069.3

p.V876V

c.2628G>T

2 papers

NM_000069.3

p.A877V

c.2630C>T

1 paper

NM_000069.3

p.V878L

c.2632G>T

1 paper

NM_000069.3

p.V878L

c.2632G>C

4 papers

NM_000069.3

p.V878M

c.2632G>A

6 papers

NM_000069.3

p.S879P

c.2635T>C

1 paper

NM_000069.3

p.R865H

c.2594G>A