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.K56N

c.168G>T

Surrounding Variants

1 paper

NM_001256789.3

p.H57N

c.169C>A

1 paper

NM_001256789.3

p.S55T

c.164G>C

3 papers

NM_001256789.3

p.K58R

c.173A>G

3 papers

NM_001256789.3

p.T59A

c.175A>G

1 paper

NM_001256789.3

p.T59K

c.176C>A

1 paper

NM_001256789.3

p.T59T

c.177A>T

1 paper

NM_001256789.3

p.R50_N52delFs

c.149_156del8

1 paper

NM_001256789.3

p.R51_N52delFs

c.151_155del5

2 papers

NM_001256789.3

p.R51fs

c.151_152fs

1 paper

NM_001256789.3

p.A63S

c.187G>T

1 paper

NM_001256789.3

p.R50P

c.149G>C

8 papers

NM_001256789.3

p.R50*

c.148C>T