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

37 papers

NM_001256789.3

p.G369D

c.1106G>A

Surrounding Variants

1 paper

NM_001256789.3

p.G369R

c.1105G>C

1 paper

NM_001256789.3

p.V370I

c.1108G>A

1 paper

NM_001256789.3

p.L368F

c.1102C>T

1 paper

NM_001256789.3

p.L364R

c.1091T>G

1 paper

NM_001256789.3

p.V363A

c.1088T>C

1 paper

NM_001256789.3

p.V363I

c.1087G>A

3 papers

NM_001256789.3

p.S360F

c.1079C>T

1 paper

NM_001256789.3

p.S360Y

c.1079C>A

6 papers

NM_001256789.3

p.G359R

c.1075G>C

6 papers

NM_001256789.3

p.G359R

c.1075G>A

6 papers

NM_001256789.3

p.W349*

c.1047G>A

6 papers

NM_001256789.3

p.W349*

c.1046G>A