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.A18V

c.53C>T

Surrounding Variants

1 paper

NM_201596.3

p.Q19R

c.56A>G

1 paper

NM_201596.3

p.A16V

c.47C>T

1 paper

NM_201596.3

p.A16fs

c.46_47fs

1 paper

NM_201596.3

p.A15E

c.44C>A

2 papers

NM_201596.3

p.A16del1

c.46_47delGCG

1 paper

NM_201596.3

p.E24K

c.70G>A

1 paper

NM_201596.3

p.P11L

c.32C>T

1 paper

NM_201596.3

p.L26P

c.77T>C

1 paper

NM_201596.3

p.V29V

c.87G>A

1 paper

NM_201596.3

p.P31T

c.91C>A

1 paper

NM_201596.3

p.P31A

c.91C>G

1 paper

NM_201596.3

p.Q3R

c.8A>G