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

1–12 of 1077 variants

37 papers

NM_001256789.3

p.G369D

c.1106G>A

31 papers

NM_001256789.3

p.I745T

c.2234T>C

25 papers

NM_001256789.3

p.S229P

c.685T>C

20 papers

NM_001256789.3

p.R508Q

c.1523G>A

18 papers

NM_001256789.3

p.L1364H

c.4091T>A

15 papers

NM_001256789.3

p.R82*

c.244C>T

14 papers

NM_001256789.3

p.L1068P

c.3203T>C

13 papers

NM_001256789.3

p.W1440*

c.4319G>A

13 papers

NM_001256789.3

p.W1440*

c.4320G>A

13 papers

NM_001256789.3

p.K1591*

c.4771A>T

12 papers

NM_001256789.3

p.R82Q

c.245G>A

11 papers

NM_001256789.3

p.F742C

c.2225T>G