Varaico: Literature-Extracted Genetic Variants

CACNA1F

428 papers

RefSeq Summary

This gene encodes a multipass transmembrane protein that functions as an alpha-1 subunit of the voltage-dependent calcium channel, which mediates the influx of calcium ions into the cell. The encoded ...

Pfam Domains

Ion_transaa 91–383UCSCIon transport protein

Ion_transaa 528–768UCSCIon transport protein

Ion_transaa 870–1148UCSCIon transport protein

Ion_transaa 1189–1452UCSCIon transport protein

GPHHaa 1461–1514UCSCVoltage-dependent L-type calcium channel, IQ-associated

Gene Aliases

HGNC Name

calcium voltage-gated channel subunit alpha1 F

HGNC Previous Symbols

CSNB2; AIED

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001256789.3

p.R1043W

c.3127C>T

Surrounding Variants

3 papers

NM_005183.4

p.L1056fs

c.3166_3167fs

6 papers

NM_005183.4

p.L1056insFs

c.3167_3168insC

NM_001256789.3

p.L1045insFs

c.3134_3135insC

1 paper

NM_001256789.3

p.D1040E

c.3120C>G

1 paper

NM_001256789.3

p.D1040E

c.3120C>A

1 paper

NM_005183.4

p.D1051fs

c.3151_3152fs

1 paper

NM_001256789.3

p.G1039*

c.3115G>T

1 paper

NM_001256789.3

p.D1038D

c.3114T>C

10 papers

NM_005183.4

p.R1060W

c.3178C>T

NM_001256789.3

p.R1049W

c.3145C>T

1 paper

NM_001256789.3

p.R1049L

c.3146G>T

1 paper

NM_005183.4

p.L1045insFs

c.3133dupC

1 paper

NM_005183.4

p.L1045fs

c.3133_3134fs

1 paper

NM_001256789.3

p.G1031delFs

c.3092delC