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.F717L

c.2151C>G

Surrounding Variants

1 paper

NM_001256789.3

p.F717L

c.2151C>A

1 paper

NM_001256789.3

p.F717L

c.2149T>C

1 paper

NM_005183.4

p.G725_P727Fs

c.2175_2179delinsCATCATGTATGATGGTATCATGGCATTFs

1 paper

NM_005183.4

p.G725_P727Fs

c.2175_2179delinsCATCATFs

1 paper

NM_001256789.3

p.G715S

c.2143G>A

1 paper

NM_005183.4

p.G726fs

c.2176_2177fs

1 paper

NM_001256789.3

p.M721V

c.2161A>G

1 paper

NM_005183.4

p.V734fs

c.2200_2201fs

1 paper

NM_001256789.3

p.A712P

c.2134G>C

1 paper

NM_005183.4

p.V734delFs

c.2201delA

1 paper

NM_001256789.3

p.C724C

c.2172C>T

2 papers

NM_001256789.3

p.Y726C

c.2177A>G