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

2 papers

NM_005183.4

p.E562Splc

c.1684+1G>A

Surrounding Variants

1 paper

NM_001256789.3

p.I549I

c.1647C>T

1 paper

NM_001256789.3

p.L546R

c.1637T>G

1 paper

NM_001256789.3

p.T534I

c.1601C>T

1 paper

NM_005183.4

p.L538_L544del0

c.1612_1632del21

1 paper

NM_001256789.3

p.T532R

c.1595C>G

1 paper

NM_005183.4

p.L541H

c.1622T>A

1 paper

NM_005183.4

p.F540S

c.1619T>C

1 paper

NM_005183.4

p.L538delFs

c.1613_1614delGA

1 paper

NM_001256789.3

p.W522_L526delFs

c.1566_1576del11

1 paper

NM_001256789.3

p.W522_L525delFs

c.1566_1575del10

1 paper

NM_005183.4

p.A534T

c.1600G>A

1 paper

NM_005183.4

p.W533*

c.1599G>A