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_005183.4

p.N1071fs

c.3211_3212fs

Surrounding Variants

1 paper

NM_005183.4

p.N1071K

c.3213T>G

1 paper

NM_005183.4

p.N1071K

c.3213T>A

1 paper

NM_001256789.3

p.D1059V

c.3176A>T

1 paper

NM_001256789.3

p.V1061L

c.3181G>C

4 papers

NM_001256789.3

p.F1056insFs

c.3166dupT

3 papers

NM_001256789.3

p.F1056insFs

c.3167_3168insC

1 paper

NM_001256789.3

p.F1056insFs

c.3166_3167insC

1 paper

NM_001256789.3

p.A1064A

c.3192C>A

1 paper

NM_001256789.3

p.D1055N

c.3163G>A

15 papers

NM_001256789.3

p.L1068P

c.3203T>C

NM_005183.4

p.L1079P

c.3236T>C

1 paper

NM_001256789.3

p.R1049L

c.3146G>T

10 papers

NM_005183.4

p.R1060W

c.3178C>T

NM_001256789.3

p.R1049W

c.3145C>T