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

Selected Variant

1 paper

NM_000726.5

p.F120L

c.360T>G

Surrounding Variants

1 paper

NM_000726.5

p.F120L

c.360T>A

1 paper

NM_000726.5

p.D121Y

c.361G>T

1 paper

NM_000726.5

p.F120L

c.358T>C

1 paper

NM_000726.5

p.K123E

c.367A>G

5 papers

NM_000726.5

p.L126P

c.377T>C

1 paper

NM_000726.5

p.V111M

c.331G>A

2 papers

NM_000726.5

p.G105S

c.313G>A

23 papers

NM_000726.5

p.C104F

c.311G>T

1 paper

NM_000726.5

p.V101_S102del2

c.301_305del6

1 paper

NM_000726.5

p.V93G

c.278T>G

1 paper

NM_000726.5

p.K89_S90Splc

c.268-1G>A

1 paper

NM_000726.5

p.K89_S90Splc

c.268-28A>C