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

25 papers

NM_001128840.3

p.F747L

c.2239T>C

NM_000720.4

p.F767L

c.2299T>C

Surrounding Variants

14 papers

NM_001128840.3

p.F747V

c.2239T>G

NM_000720.4

p.F767V

c.2299T>G

11 papers

NM_000720.4

p.F767S

c.2300T>C

NM_001128840.3

p.F747S

c.2240T>C

6 papers

NM_001128840.3

p.F747C

c.2240T>G

24 papers

NM_001128840.3

p.F747L

c.2241C>A

NM_000720.4

p.F767L

c.2301C>A

24 papers

NM_001128840.3

p.F747L

c.2241C>G

NM_000720.4

p.F767L

c.2301C>G

2 papers

NM_001128840.3

p.L748S

c.2243T>C

7 papers

NM_000720.4

p.A769T

c.2305G>A

NM_001128840.3

p.A749T

c.2245G>A

30 papers

NM_000720.4

p.A769G

c.2306C>G

NM_001128840.3

p.A749G

c.2246C>G

5 papers

NM_001128840.3

p.I750F

c.2248A>T

30 papers

NM_001128840.3

p.I750M

c.2250C>G

NM_000720.4

p.I770M

c.2310C>G

1 paper

NM_001128840.3

p.V752I

c.2254G>A

1 paper

NM_001128840.3

p.V752A

c.2255T>C