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.I728I

c.2184C>A

Surrounding Variants

1 paper

NM_001256789.3

p.I728delFs

c.2184delG

1 paper

NM_005183.4

p.F738delFs

c.2213delA

1 paper

NM_005183.4

p.L741F

c.2221C>T

2 papers

NM_001256789.3

p.Y726C

c.2177A>G

3 papers

NM_005183.4

p.F742C

c.2225T>G

1 paper

NM_001256789.3

p.C724C

c.2172C>T

1 paper

NM_005183.4

p.V734delFs

c.2201delA

1 paper

NM_005183.4

p.V734fs

c.2200_2201fs

1 paper

NM_001256789.3

p.G734delFs

c.2201delC

3 papers

NM_005183.4

p.N746T

c.2237A>C

NM_001256789.3

p.N735T

c.2204A>C

1 paper

NM_001256789.3

p.M721V

c.2161A>G

1 paper

NM_005183.4

p.Y747Splc

c.2239+5C>G