Varaico: Literature-Extracted Genetic Variants

CACNB2

10p12.33-p12.31 (UCSC)OMIM PanelApp GTEx

218 papers

RefSeq Summary

This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen t...

Pfam Domains

VGCC_beta4Aa_Naa 24–65UCSCVoltage gated calcium channel subunit beta domain 4Aa N terminal

Guanylate_kinaa 194–374UCSCGuanylate kinase

Gene Aliases

HGNC Name

calcium voltage-gated channel auxiliary subunit beta 2

HGNC Previous Symbols

MYSB; CACNLB2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_201596.3

p.G167D

c.500G>A

Surrounding Variants

1 paper

NM_201596.3

p.G167A

c.500G>C

6 papers

NM_201596.3

p.G167S

c.499G>A

1 paper

NM_201596.3

p.E166G

c.497A>G

1 paper

NM_201596.3

p.K165E

c.493A>G

2 papers

NM_201596.3

p.I170V

c.508A>G

1 paper

NM_201596.3

p.I170F

c.508A>T

1 paper

NM_201596.3

p.G161R

c.481G>A

1 paper

NM_201596.3

p.P176L

c.527C>T

1 paper

NM_201596.3

p.N155K

c.465C>A

1 paper

NM_201596.3

p.N155K

c.465C>G

1 paper

NM_201596.3

p.E180*

c.538G>T

1 paper

NM_201596.3

p.F154V

c.460T>G