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_001256789.3

p.W702R

c.2104T>C

Surrounding Variants

1 paper

NM_001256789.3

p.W702R

c.2104T>A

1 paper

NM_001256789.3

p.L697_G699del3

c.2089_2096del9

2 papers

NM_001256789.3

p.T698_G699delFs

c.2094_2095delCT

3 papers

NM_001256789.3

p.L697P

c.2090T>C

NM_005183.4

p.L708P

c.2123T>C

1 paper

NM_005183.4

p.L708L

c.2122C>T

1 paper

NM_005183.4

p.Q706_I707Splc

c.2119-2A>G

1 paper

NM_001256789.3

p.A712P

c.2134G>C

1 paper

NM_001256789.3

p.G715S

c.2143G>A

1 paper

NM_005183.4

p.G726fs

c.2176_2177fs

1 paper

NM_005183.4

p.G725_P727Fs

c.2175_2179delinsCATCATGTATGATGGTATCATGGCATTFs

1 paper

NM_005183.4

p.G725_P727Fs

c.2175_2179delinsCATCATFs

1 paper

NM_001256789.3

p.F717L

c.2149T>C