Varaico: Literature-Extracted Genetic Variants

CACNA1A

1,183 papers

RefSeq Summary

Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or n...

Pfam Domains

Ion_transaa 97–371UCSCIon transport protein

Ion_transaa 486–725UCSCIon transport protein

Ion_transaa 1242–1520UCSCIon transport protein

Ion_transaa 1564–1821UCSCIon transport protein

GPHHaa 1830–1883UCSCVoltage-dependent L-type calcium channel, IQ-associated

Ca_chan_IQaa 1893–1970UCSCVoltage gated calcium channel IQ domain

Gene Aliases

HGNC Name

calcium voltage-gated channel subunit alpha1 A

HGNC Previous Symbols

CACNL1A4; SCA6; MHP1; MHP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001127222.2

p.G1335delFs

c.4005delT

Surrounding Variants

2 papers

NM_001127222.2

p.D1337Y

c.4009G>T

1 paper

NM_001127222.2

p.K1334_G1335del2

c.4000_4004del6

1 paper

NM_001127222.2

p.K1336R

c.4007A>G

27 papers

NM_001127222.2

p.K1336E

c.4006A>G

1 paper

NM_001127222.2

p.I1338V

c.4012A>G

4 papers

NM_001127222.2

p.I1338T

c.4013T>C

NM_000068.4

p.I1342T

c.4025T>C

1 paper

NM_001127221.2

p.T1341M

c.4022C>T

1 paper

NM_001127222.2

p.N1339_T1340del1

c.4016_4018delTGT

2 papers

NM_001127221.2

p.I1342T

c.4025T>C

1 paper

NM_001127222.2

p.S1343Y

c.4028C>A

4 papers

NM_001127222.2

p.L1344P

c.4031T>C

NM_001127221.2

p.L1345P

c.4034T>C

5 papers

NM_001127222.2

p.R1345*

c.4033C>T

NM_023035.3

p.R1349*

c.4045C>T

NM_001127221.2

p.R1346*

c.4036C>T