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

26 papers

NM_001127222.2

p.R195K

c.584G>A

Surrounding Variants

1 paper

NM_001127222.2

p.R195R

c.585G>A

2 papers

NM_001127222.2

p.A196V

c.587C>T

1 paper

NM_001127222.2

p.T193T

c.579G>T

3 papers

NM_001127222.2

p.T193T

c.579G>A

1 paper

NM_001127222.2

p.V197I

c.589G>A

1 paper

NM_001127222.2

p.T193R

c.578C>G

2 papers

NM_001127222.2

p.R198*

c.592C>T

161 papers

NM_001127222.2

p.R192Q

c.575G>A

11 papers

NM_001127222.2

p.R198Q

c.593G>A

5 papers

NM_001127222.2

p.R192W

c.574C>T

1 paper

NM_001127222.2

p.R198_V199insFs

c.594_597dup4

2 papers

NM_001127222.2

p.D190G

c.569A>G