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.G255V

c.764G>T

Surrounding Variants

4 papers

NM_001256789.3

p.G255E

c.764G>A

1 paper

NM_001256789.3

p.G255R

c.763G>C

1 paper

NM_001256789.3

p.G255R

c.763G>A

2 papers

NM_001256789.3

p.I254T

c.761T>C

6 papers

NM_001256789.3

p.G261R

c.781G>C

6 papers

NM_001256789.3

p.G261R

c.781G>A

5 papers

NM_001256789.3

p.R262*

c.784C>T

1 paper

NM_001256789.3

p.V244_I248del0

c.732_743del12

1 paper

NM_001256789.3

p.I248V

c.742A>G

1 paper

NM_001256789.3

p.V247L

c.739G>C

1 paper

NM_001256789.3

p.L245P

c.734T>C

1 paper

NM_001256789.3

p.K265T

c.794A>C