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

1–12 of 1353 variants

52 papers

NM_001128840.3

p.G403R

c.1207G>C

39 papers

NM_001128840.3

p.G403D

c.1208G>A

28 papers

NM_001128840.3

p.A749G

c.2246C>G

26 papers

NM_001128840.3

p.I750M

c.2250C>G

25 papers

NM_001128840.3

p.G407R

c.1219G>A

25 papers

NM_001128840.3

p.G407R

c.1219G>C

25 papers

NM_001128840.3

p.F747L

c.2239T>C

24 papers

NM_001128840.3

p.S652L

c.1955C>T

24 papers

NM_001128840.3

p.F747L

c.2241C>A

24 papers

NM_001128840.3

p.F747L

c.2241C>G

23 papers

NM_001128840.3

p.V259D

c.776T>A

20 papers

NM_001128840.3

p.V401L

c.1201G>T