Varaico: Literature-Extracted Genetic Variants

CACNA1D

457 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 125–417UCSCIon transport protein

Ion_transaa 522–762UCSCIon transport protein

Ion_transaa 885–1163UCSCIon transport protein

Ion_transaa 1204–1475UCSCIon transport protein

GPHHaa 1484–1537UCSCVoltage-dependent L-type calcium channel, IQ-associated

Ca_chan_IQaa 1547–1621UCSCVoltage gated calcium channel IQ domain

Gene Aliases

HGNC Name

calcium voltage-gated channel subunit alpha1 D

HGNC Previous Symbols

CCHL1A2; CACNL1A2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

52 papers

NM_001128840.3

p.G403R

c.1207G>C

Surrounding Variants

5 papers

NM_001128840.3

p.G403_V404insG

c.1207_1211ins3

39 papers

NM_001128840.3

p.G403D

c.1208G>A

3 papers

NM_001128840.3

p.G403ins1

c.1208_1209insGGG

1 paper

NM_001128840.3

p.V404L

c.1210G>C

1 paper

NM_001128840.3

p.V404L

c.1210G>T

19 papers

NM_001128840.3

p.V401L

c.1201G>C

20 papers

NM_001128840.3

p.V401L

c.1201G>T

1 paper

NM_001128840.3

p.S406delFs

c.1218delC

1 paper

NM_001128840.3

p.N399fs

c.1195_1196fs

25 papers

NM_001128840.3

p.G407R

c.1219G>A

25 papers

NM_001128840.3

p.G407R

c.1219G>C

1 paper

NM_001128840.3

p.L398P

c.1193T>C