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

4 papers

NM_000069.3

p.R531C

c.1591C>T

Surrounding Variants

1 paper

NM_000069.3

p.R531L

c.1592G>T

4 papers

NM_000069.3

p.R531H

c.1592G>A

1 paper

NM_000069.3

p.C529F

c.1586G>T

4 papers

NM_000069.3

p.R528L

c.1583G>T

146 papers

NM_000069.3

p.R528H

c.1583G>A

14 papers

NM_000069.3

p.R528C

c.1582C>T

31 papers

NM_000069.3

p.R528G

c.1582C>G

1 paper

NM_000069.3

p.R534M

c.1601G>T

2 papers

NM_000069.3

p.V526M

c.1576G>A

1 paper

NM_000069.3

p.G523V

c.1568G>T

1 paper

NM_000069.3

p.G523D

c.1568G>A

5 papers

NM_000069.3

p.L522L

c.1564C>T