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.I88M

c.264C>G

Surrounding Variants

5 papers

NM_001256789.3

p.I88N

c.263T>A

1 paper

NM_001256789.3

p.V89M

c.265G>A

1 paper

NM_001256789.3

p.E90Q

c.268G>C

1 paper

NM_001256789.3

p.W91L

c.272G>T

1 paper

NM_001256789.3

p.W91*

c.272G>A

1 paper

NM_001256789.3

p.W91C

c.273G>T

1 paper

NM_001256789.3

p.E90_W91insFs

c.270_271insGT

1 paper

NM_001256789.3

p.W91C

c.273G>C

1 paper

NM_001256789.3

p.W91*

c.273G>A

1 paper

NM_001256789.3

p.C85R

c.253T>C

1 paper

NM_001256789.3

p.W91_K92delFs

c.271_274del4

1 paper

NM_001256789.3

p.S84Y

c.251C>A