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

26 papers

NM_001128840.3

p.S652L

c.1955C>T

NM_000720.4

p.S672L

c.2015C>T

Surrounding Variants

3 papers

NM_001128840.3

p.S652W

c.1955C>G

NM_000720.4

p.S672W

c.2015C>G

2 papers

NM_001128840.3

p.L653P

c.1958T>C

2 papers

NM_001128840.3

p.I650N

c.1949T>A

1 paper

NM_001128840.3

p.L654F

c.1962G>C

1 paper

NM_001128840.3

p.L654F

c.1962G>T

1 paper

NM_001128840.3

p.L655F

c.1963C>T

9 papers

NM_001128840.3

p.L655P

c.1964T>C

1 paper

NM_001128840.3

p.K648R

c.1943A>G

1 paper

NM_001128840.3

p.L656P

c.1967T>C

1 paper

NM_001128840.3

p.L656L

c.1968G>A

1 paper

NM_000720.4

p.M667fs

c.1999_2000fs

1 paper

NM_000720.4

p.S666insFs

c.1998dupC