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.Q1590*

c.4768C>T

Surrounding Variants

1 paper

NM_001256789.3

p.E1566_F1576del11

c.4696_4727del33

1 paper

NM_001256789.3

p.E1566_T1575del10

c.4696_4724del30

1 paper

NM_001256789.3

p.T1575S

c.4723A>T

1 paper

NM_001256789.3

p.R1583H

c.4748G>A

1 paper

NM_001256789.3

p.E1590Q

c.4768G>C

1 paper

NM_001256789.3

p.E1590fs

c.4768_4769fs

15 papers

NM_001256789.3

p.K1591*

c.4771A>T

NM_005183.4

p.K1602*

c.4804A>T

3 papers

NM_005183.4

p.E1575Splc

c.4724-2A>G

NM_001256789.3

p.E1564Splc

c.4691-2A>G

1 paper

NM_001256789.3

p.L1594L

c.4782A>G

1 paper

NM_005183.4

p.N1607fs

c.4819_4820fs

1 paper

NM_005183.4

p.G1606delFs

c.4818delG

1 paper

NM_005183.4

p.N1607T

c.4820A>C