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

2 papers

NM_001256789.3

p.L270fs

c.808_809fs

Surrounding Variants

1 paper

NM_001256789.3

p.L270_G271insGT

c.808_812ins6

1 paper

NM_001256789.3

p.L270delFs

c.808delG

1 paper

NM_001256789.3

p.Y268delFs

c.803_804delGT

1 paper

NM_001256789.3

p.G271R

c.811G>C

1 paper

NM_001256789.3

p.G271R

c.811G>A

2 papers

NM_001256789.3

p.Y268*

c.804C>G

2 papers

NM_001256789.3

p.Y268*

c.804C>A

1 paper

NM_001256789.3

p.C267W

c.801C>G

1 paper

NM_001256789.3

p.S272insFs

c.816dupC

1 paper

NM_001256789.3

p.D273Splc

c.817+1G>A

2 papers

NM_001256789.3

p.T266Fs

c.796_797delinsGAACTTFs

3 papers

NM_001256789.3

p.T266fs

c.796_797fs