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.R498C

c.1492C>T

Surrounding Variants

1 paper

NM_000069.3

p.R498S

c.1492C>A

11 papers

NM_000069.3

p.R498L

c.1493G>T

12 papers

NM_000069.3

p.R498H

c.1493G>A

6 papers

NM_000069.3

p.N497N

c.1491C>T

1 paper

NM_000069.3

p.Y491_S494del4

c.1471_1481del12

1 paper

NM_000069.3

p.C501F

c.1502G>T

1 paper

NM_000069.3

p.Y491_S494del0

c.1472_1480del9

1 paper

NM_000069.3

p.V503M

c.1507G>A

1 paper

NM_000069.3

p.C505C

c.1515T>C

1 paper

NM_000069.3

p.S506T

c.1517G>C

1 paper

NM_000069.3

p.G507S

c.1519G>A

3 papers

NM_000069.3

p.R489C

c.1465C>T