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.R508Q

c.1523G>A

Surrounding Variants

2 papers

NM_005183.4

p.R519P

c.1556G>C

1 paper

NM_005183.4

p.R519R

c.1557G>T

3 papers

NM_005183.4

p.R519W

c.1555C>T

2 papers

NM_001256789.3

p.C511Y

c.1532G>A

NM_005183.4

p.C522Y

c.1565G>A

6 papers

NM_001256789.3

p.R513W

c.1537C>T

1 paper

NM_005183.4

p.R524Q

c.1571G>A

1 paper

NM_005183.4

p.R513delFs

c.1538_1539delTC

1 paper

NM_001256789.3

p.R513delFs

c.1538_1539delCC

5 papers

NM_005183.4

p.R513*

c.1537C>T

NM_001256789.3

p.R502*

c.1504C>T

1 paper

NM_001256789.3

p.R513_A514delFs

c.1538_1542del5

1 paper

NM_001256789.3

p.L500L

c.1500C>G

1 paper

NM_001256789.3

p.R498H

c.1493G>A