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

10 papers

NM_001256789.3

p.C74R

c.220T>C

Surrounding Variants

1 paper

NM_001256789.3

p.R70_F73delFs

c.208_217del10

1 paper

NM_001256789.3

p.A71_C74del4

c.211_221del12

1 paper

NM_001256789.3

p.A71_L72insFs

c.211_214dup4

4 papers

NM_001256789.3

p.R70Q

c.209G>A

1 paper

NM_001256789.3

p.R70fs

c.208_209fs

4 papers

NM_001256789.3

p.R70W

c.208C>T

1 paper

NM_001256789.3

p.A78V

c.233C>T

1 paper

NM_001256789.3

p.S68A

c.202T>G

1 paper

NM_001256789.3

p.S68T

c.202T>A

1 paper

NM_001256789.3

p.R67Q

c.200G>A

1 paper

NM_001256789.3

p.R67W

c.199C>T

1 paper

NM_001256789.3

p.L81_R82insA

c.241_245ins3