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.E1251_G1252del1

c.3752_3754delCTT

Surrounding Variants

1 paper

NM_000069.3

p.V1253A

c.3758T>C

1 paper

NM_000069.3

p.E1251_G1252del2

c.3751_3755del6

1 paper

NM_000069.3

p.E1251K

c.3751G>A

5 papers

NM_000069.3

p.R1254Q

c.3761G>A

1 paper

NM_000069.3

p.R1249Q

c.3746G>A

1 paper

NM_000069.3

p.W1258*

c.3773G>A

1 paper

NM_000069.3

p.W1258*

c.3774G>A

1 paper

NM_000069.3

p.T1259M

c.3776C>T

1 paper

NM_000069.3

p.L1243V

c.3727C>G

4 papers

NM_000069.3

p.R1242S

c.3726G>T

4 papers

NM_000069.3

p.R1242S

c.3726G>C

16 papers

NM_000069.3

p.R1242G

c.3724A>G