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.I160I

c.480A>T

Surrounding Variants

1 paper

NM_000726.5

p.E158_N159del1

c.474_476delTTC

2 papers

NM_000726.5

p.E147K

c.439G>A

1 paper

NM_000726.5

p.G139E

c.416G>A

1 paper

NM_000726.5

p.G174Splc

c.521+39G>C

1 paper

NM_000726.5

p.N134D

c.400A>G

1 paper

NM_000726.5

p.S198P

c.592T>C

5 papers

NM_000726.5

p.L126P

c.377T>C

1 paper

NM_000726.5

p.K123E

c.367A>G

1 paper

NM_000726.5

p.D121Y

c.361G>T

1 paper

NM_000726.5

p.F120L

c.360T>G

1 paper

NM_000726.5

p.F120L

c.360T>A

1 paper

NM_000726.5

p.F120L

c.358T>C