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.R473H

c.1418G>A

Surrounding Variants

1 paper

NM_000726.5

p.R471S

c.1413G>T

1 paper

NM_000726.5

p.S475F

c.1424C>T

1 paper

NM_000726.5

p.L474_S476del3

c.1420_1427del9

1 paper

NM_000726.5

p.K469E

c.1405A>G

7 papers

NM_000726.5

p.R468Q

c.1403G>A

19 papers

NM_000726.5

p.R482*

c.1444C>T

2 papers

NM_000726.5

p.S458Y

c.1373C>A

1 paper

NM_000726.5

p.R452K

c.1355G>A

1 paper

NM_000726.5

p.R517Q

c.1550G>A

1 paper

NM_000726.5

p.A429V

c.1286C>T

1 paper

NM_000726.5

p.L413L

c.1239G>A

1 paper

NM_000726.5

p.T411I

c.1232C>T