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_005183.4

p.W1466R

c.4396T>A

Surrounding Variants

1 paper

NM_005183.4

p.W1466R

c.4396T>C

2 papers

NM_005183.4

p.W1466L

c.4397G>T

1 paper

NM_001256789.3

p.I1454S

c.4361T>G

1 paper

NM_001256789.3

p.S1456Y

c.4367C>A

1 paper

NM_001256789.3

p.E1450Q

c.4348G>C

2 papers

NM_005183.4

p.L1459P

c.4376T>C

1 paper

NM_005183.4

p.G1455V

c.4364G>T

1 paper

NM_001256789.3

p.W1440_S1441del2

c.4318_4322del6

14 papers

NM_001256789.3

p.W1440*

c.4320G>A

NM_005183.4

p.W1451*

c.4353G>A

14 papers

NM_001256789.3

p.W1440*

c.4319G>A

NM_005183.4

p.W1451*

c.4352G>A

1 paper

NM_001256789.3

p.R1438G

c.4312A>G

1 paper

NM_005183.4

p.R1449fs

c.4345_4346fs