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

6 papers

NM_001128840.3

p.V259G

c.776T>G

Surrounding Variants

23 papers

NM_001128840.3

p.V259D

c.776T>A

7 papers

NM_001128840.3

p.V259A

c.776T>C

1 paper

NM_001128840.3

p.L257L

c.771A>G

1 paper

NM_001128840.3

p.S263P

c.787T>C

3 papers

NM_001128840.3

p.I264V

c.790A>G

1 paper

NM_001128840.3

p.M268V

c.802A>G

1 paper

NM_001128840.3

p.P270L

c.809C>T

11 papers

NM_001128840.3

p.L271H

c.812T>A

1 paper

NM_001128840.3

p.L272H

c.815T>A

3 papers

NM_001128840.3

p.L272R

c.815T>G

1 paper

NM_001128840.3

p.A275A

c.825C>A

1 paper

NM_001128840.3

p.L276I

c.826C>A