Varaico: Literature-Extracted Genetic Variants

CACNB4

139 papers

RefSeq Summary

This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarizatio...

Pfam Domains

VGCC_beta4Aa_Naa 3–44UCSCVoltage gated calcium channel subunit beta domain 4Aa N terminal

Guanylate_kinaa 171–351UCSCGuanylate kinase

Gene Aliases

HGNC Name

calcium voltage-gated channel auxiliary subunit beta 4

HGNC Alias Symbol

EJM4

Papers

RefSeq ID

Protein change

DNA change

1–12 of 86 variants

23 papers

NM_000726.5

p.C104F

c.311G>T

19 papers

NM_000726.5

p.R482*

c.1444C>T

7 papers

NM_000726.5

p.R468Q

c.1403G>A

5 papers

NM_000726.5

p.L126P

c.377T>C

5 papers

NM_000726.5

p.A387A

c.1161A>T

3 papers

NM_000726.5

p.S218L

c.653C>T

3 papers

NM_000726.5

p.R220H

c.659G>A

2 papers

NM_000726.5

p.G105S

c.313G>A

2 papers

NM_000726.5

p.E147K

c.439G>A

2 papers

NM_000726.5

p.Q204fs

c.610_611fs

2 papers

NM_000726.5

p.Q204delFs

c.610delG

2 papers

NM_000726.5

p.S458Y

c.1373C>A