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.R83fs

c.247_248fs

Surrounding Variants

2 papers

NM_001256789.3

p.R83W

c.247C>T

1 paper

NM_001256789.3

p.R83Q

c.248G>A

1 paper

NM_001256789.3

p.R82insFs

c.245dupG

1 paper

NM_001256789.3

p.R82P

c.245G>C

12 papers

NM_001256789.3

p.R82Q

c.245G>A

15 papers

NM_001256789.3

p.R82*

c.244C>T

1 paper

NM_001256789.3

p.S84Y

c.251C>A

1 paper

NM_001256789.3

p.C85R

c.253T>C

1 paper

NM_001256789.3

p.L81_R82insA

c.241_245ins3

1 paper

NM_001256789.3

p.A78V

c.233C>T

5 papers

NM_001256789.3

p.I88N

c.263T>A

1 paper

NM_001256789.3

p.I88M

c.264C>G