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

20 papers

NM_001256789.3

p.L1364H

c.4091T>A

NM_005183.4

p.L1375H

c.4124T>A

Surrounding Variants

1 paper

NM_001256789.3

p.L1365del1

c.4093_4095delCAG

1 paper

NM_001256789.3

p.F1366S

c.4097T>C

1 paper

NM_001256789.3

p.N1353_Q1356delFs

c.4059_4066del8

1 paper

NM_005183.4

p.N1365del1

c.4093_4095delGTT

1 paper

NM_001256789.3

p.N1352_N1353insFs

c.4056_4057insGT

6 papers

NM_001256789.3

p.R1351*

c.4051C>T

NM_005183.4

p.R1362*

c.4084C>T

3 papers

NM_001256789.3

p.Q1348*

c.4042C>T

NM_005183.4

p.Q1359*

c.4075C>T

1 paper

NM_001256789.3

p.L1343F

c.4027C>T

3 papers

NM_005183.4

p.G1350V

c.4049G>T

NM_001256789.3

p.G1339V

c.4016G>T

2 papers

NM_005183.4

p.G1350D

c.4049G>A

1 paper

NM_005183.4

p.G1350S

c.4048G>A

1 paper

NM_005183.4

p.Q1347_M1348Splc

c.4042-1G>T