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.S222Splc

c.665-2A>G

Surrounding Variants

1 paper

NM_001256789.3

p.L223V

c.667C>G

1 paper

NM_001256789.3

p.I225fs

c.673_674fs

1 paper

NM_001256789.3

p.H224_I225delFs

c.672_673delTG

1 paper

NM_001256789.3

p.L227F

c.679C>T

25 papers

NM_001256789.3

p.S229P

c.685T>C

1 paper

NM_001256789.3

p.I230delins

c.689_690delinsGG

1 paper

NM_001256789.3

p.V235L

c.703G>T

1 paper

NM_001256789.3

p.V235L

c.703G>C

1 paper

NM_001256789.3

p.V235A

c.704T>C

1 paper

NM_001256789.3

p.L237fs

c.709_710fs

1 paper

NM_001256789.3

p.L237P

c.710T>C

1 paper

NM_001256789.3

p.L238L

c.712C>T