Varaico: Literature-Extracted Genetic Variants

CACNA1E

494 papers

RefSeq Summary

Voltage-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These channels mediate the entry of calcium ions into excitab...

Pfam Domains

Ion_transaa 88–362UCSCIon transport protein

Ion_transaa 475–714UCSCIon transport protein

Ion_transaa 1152–1433UCSCIon transport protein

Ion_transaa 1477–1734UCSCIon transport protein

GPHHaa 1743–1796UCSCVoltage-dependent L-type calcium channel, IQ-associated

Ca_chan_IQaa 1806–1883UCSCVoltage gated calcium channel IQ domain

Gene Aliases

HGNC Name

calcium voltage-gated channel subunit alpha1 E

HGNC Previous Symbol

CACNL1A6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001205293.3

p.K2027N

c.6081G>C

Surrounding Variants

1 paper

NM_001205293.3

p.K2027N

c.6081G>T

1 paper

NM_001205293.3

p.S2032S

c.6096G>A

1 paper

NM_001205293.3

p.W2033C

c.6099G>C

1 paper

NM_001205293.3

p.W2033C

c.6099G>T

1 paper

NM_001205293.3

p.R2041*

c.6121C>T

1 paper

NM_001205293.3

p.R2041R

c.6123A>G

1 paper

NM_001205293.3

p.K2048*

c.6142A>T

1 paper

NM_001205293.3

p.R2059W

c.6175C>T

1 paper

NM_001205293.3

p.R2064C

c.6190C>T

1 paper

NM_001205293.3

p.R2064H

c.6191G>A

1 paper

NM_001205293.3

p.Q2009*

c.6025C>T

1 paper

NM_001205293.3

p.T2005_V2006del2

c.6013_6017del6