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.T207T

c.621G>A

Surrounding Variants

3 papers

NM_000726.5

p.S218L

c.653C>T

1 paper

NM_000726.5

p.M219V

c.655A>G

3 papers

NM_000726.5

p.R220H

c.659G>A

1 paper

NM_000726.5

p.V222A

c.665T>C

1 paper

NM_000726.5

p.V223M

c.667G>A

1 paper

NM_000726.5

p.K205N

c.615A>T

1 paper

NM_000726.5

p.K205N

c.615A>C

2 papers

NM_000726.5

p.Q204delFs

c.610delG

2 papers

NM_000726.5

p.Q204fs

c.610_611fs

1 paper

NM_000726.5

p.M238L

c.712A>T

1 paper

NM_000726.5

p.Q239*

c.715C>T

1 paper

NM_000726.5

p.S198P

c.592T>C