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.P24_E25delFs

c.71_74del4

Surrounding Variants

1 paper

NM_001256789.3

p.E25*

c.73G>T

1 paper

NM_001256789.3

p.G27_L28insFs

c.81_82insA

1 paper

NM_001256789.3

p.P22S

c.64C>T

2 papers

NM_001256789.3

p.G31R

c.91G>C

2 papers

NM_001256789.3

p.G31R

c.91G>A

1 paper

NM_001256789.3

p.G31A

c.92G>C

1 paper

NM_001256789.3

p.G31E

c.92G>A

1 paper

NM_001256789.3

p.G19E

c.56G>A

1 paper

NM_001256789.3

p.P32S

c.94C>T

1 paper

NM_001256789.3

p.G19R

c.55G>A

1 paper

NM_001256789.3

p.V35M

c.103G>A

1 paper

NM_001256789.3

p.V35A

c.104T>C