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.K1336E

c.4006A>G

Surrounding Variants

1 paper

NM_000069.3

p.L1337P

c.4010T>C

1 paper

NM_000069.3

p.Y1334C

c.4001A>G

1 paper

NM_000069.3

p.C1338fs

c.4012_4013fs

1 paper

NM_000069.3

p.C1338*

c.4014T>A

1 paper

NM_000069.3

p.C1338_D1339delFs

c.4012_4015del4

1 paper

NM_000069.3

p.L1330P

c.3989T>C

1 paper

NM_000069.3

p.S1342*

c.4025C>A

1 paper

NM_000069.3

p.I1328V

c.3982A>G

1 paper

NM_000069.3

p.Q1326R

c.3977A>G

1 paper

NM_000069.3

p.Q1326*

c.3976C>T

1 paper

NM_000069.3

p.W1325*

c.3975G>A

1 paper

NM_000069.3

p.E1348K

c.4042G>A