Varaico: Literature-Extracted Genetic Variants

CACNA2D1

224 papers

RefSeq Summary

The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent calcium channel complex. Calcium channels mediate the influ...

Pfam Domains

VWA_Naa 104–223UCSCVWA N-terminal

VWAaa 253–425UCSCvon Willebrand factor type A domain

VGCC_alpha2aa 644–1072UCSCNeuronal voltage-dependent calcium channel alpha 2acd

Gene Aliases

HGNC Name

calcium voltage-gated channel auxiliary subunit alpha2delta 1

HGNC Previous Symbols

CACNL2A; CACNA2; MHS3; LINC01112

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

26 papers

NM_000722.4

p.S755T

c.2264G>C

Surrounding Variants

1 paper

NM_000722.4

p.F763F

c.2289C>T

2 papers

NM_000722.4

p.T746I

c.2237C>T

1 paper

NM_000722.4

p.N739I

c.2216A>T

1 paper

NM_000722.4

p.E735Splc

c.2205-18G>A

1 paper

NM_000722.4

p.P773A

c.2317C>G

2 papers

NM_000722.4

p.S778L

c.2333C>T

1 paper

NM_000722.4

p.A785P

c.2353G>C

1 paper

NM_000722.4

p.Q791H

c.2373A>T

1 paper

NM_000722.4

p.Q791H

c.2373A>C

19 papers

NM_000722.4

p.S709N

c.2126G>A

1 paper

NM_000722.4

p.A687V

c.2060C>T

1 paper

NM_000722.4

p.A687T

c.2059G>A