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

14 papers

NM_005183.4

p.F753C

c.2258T>G

NM_001256789.3

p.F742C

c.2225T>G

Surrounding Variants

1 paper

NM_001256789.3

p.V741G

c.2222T>G

1 paper

NM_001256789.3

p.A744D

c.2231C>A

36 papers

NM_001256789.3

p.I745T

c.2234T>C

NM_005183.4

p.I756T

c.2267T>C

1 paper

NM_001256789.3

p.N749_L750del1

c.2247_2249delAGG

1 paper

NM_005183.4

p.G767delFs

c.2299delC

1 paper

NM_005183.4

p.K772*

c.2314A>T

1 paper

NM_005183.4

p.G774Splc

c.2321+1G>T

1 paper

NM_001256789.3

p.G763Splc

c.2288+1G>A

1 paper

NM_005183.4

p.G774Splc

c.2321+5G>T

1 paper

NM_005183.4

p.Y747Splc

c.2239+5C>G

3 papers

NM_005183.4

p.N746T

c.2237A>C

NM_001256789.3

p.N735T

c.2204A>C

1 paper

NM_001256789.3

p.G734delFs

c.2201delC