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.I1102V

c.3304A>G

Surrounding Variants

1 paper

NM_000069.3

p.N1105S

c.3314A>G

1 paper

NM_000069.3

p.P1097Q

c.3290C>A

2 papers

NM_000069.3

p.R1096H

c.3287G>A

1 paper

NM_000069.3

p.Q1108E

c.3322C>G

3 papers

NM_000069.3

p.V1111M

c.3331G>A

1 paper

NM_000069.3

p.V1111V

c.3333G>A

1 paper

NM_000069.3

p.Y1091S

c.3272A>C

1 paper

NM_000069.3

p.V1089I

c.3265G>A

1 paper

NM_000069.3

p.T1116I

c.3347C>T

3 papers

NM_000069.3

p.Q1087Q

c.3261A>G

1 paper

NM_000069.3

p.R1086L

c.3257G>T

47 papers

NM_000069.3

p.R1086H

c.3257G>A