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.Q3R

c.8A>G

Surrounding Variants

1 paper

NM_201596.3

p.Q3*

c.7C>T

6 papers

NM_201596.3

p.V2D

c.5T>A

1 paper

NM_201596.3

p.V2insFs

c.4dupG

1 paper

NM_201596.3

p.M1insFs

c.2dupT

1 paper

NM_201596.3

p.M1_V2ins3

c.3_4ins9

1 paper

NM_201596.3

p.M1insFs

c.2_3ins4

1 paper

NM_201596.3

p.M1insFs

c.2_3ins5

2 papers

NM_201596.3

p.M1V

c.1A>G

1 paper

NM_201596.3

p.P11L

c.32C>T

2 papers

NM_201596.3

p.A16del1

c.46_47delGCG

1 paper

NM_201596.3

p.A15E

c.44C>A

1 paper

NM_201596.3

p.A16fs

c.46_47fs