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

3 papers

NM_001256789.3

p.D1434G

c.4301A>G

Surrounding Variants

1 paper

NM_001256789.3

p.N1432Y

c.4294A>T

1 paper

NM_001256789.3

p.R1438G

c.4312A>G

1 paper

NM_005183.4

p.R1449fs

c.4345_4346fs

14 papers

NM_001256789.3

p.W1440*

c.4319G>A

NM_005183.4

p.W1451*

c.4352G>A

14 papers

NM_001256789.3

p.W1440*

c.4320G>A

NM_005183.4

p.W1451*

c.4353G>A

1 paper

NM_001256789.3

p.W1440_S1441del2

c.4318_4322del6

1 paper

NM_005183.4

p.G1455V

c.4364G>T

1 paper

NM_001256789.3

p.I1422L

c.4264A>T

1 paper

NM_001256789.3

p.I1422L

c.4264A>C

1 paper

NM_001256789.3

p.I1421delFs

c.4262delA

1 paper

NM_001256789.3

p.I1421fs

c.4261_4262fs

1 paper

NM_001256789.3

p.I1421F

c.4261A>T