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

59 papers

NM_000069.3

p.R1239G

c.3715C>G

Surrounding Variants

109 papers

NM_000069.3

p.R1239H

c.3716G>A

1 paper

NM_000069.3

p.M1241T

c.3722T>C

1 paper

NM_000069.3

p.R1236H

c.3707G>A

16 papers

NM_000069.3

p.R1242G

c.3724A>G

4 papers

NM_000069.3

p.R1242S

c.3726G>T

4 papers

NM_000069.3

p.R1242S

c.3726G>C

1 paper

NM_000069.3

p.L1243V

c.3727C>G

1 paper

NM_000069.3

p.R1229_A1233delFs

c.3686_3699del14

1 paper

NM_000069.3

p.S1231C

c.3692C>G

1 paper

NM_000069.3

p.R1229R

c.3687C>A

1 paper

NM_000069.3

p.R1229H

c.3686G>A

1 paper

NM_000069.3

p.R1229C

c.3685C>T