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

3 papers

NM_201596.3

p.S73L

c.218C>T

Surrounding Variants

1 paper

NM_201596.3

p.G72_S73insFs

c.216_217insA

1 paper

NM_201596.3

p.G72V

c.215G>T

1 paper

NM_201596.3

p.Q71_G72Splc

c.214-6C>T

1 paper

NM_201596.3

p.D85N

c.253G>A

1 paper

NM_000724.4

p.A39V

c.116C>T

1 paper

NM_201596.3

p.R97K

c.290G>A

1 paper

NM_201596.3

p.R97I

c.290G>T

1 paper

NM_201596.3

p.R97R

c.291A>G

2 papers

NM_201596.3

p.A99G

c.296C>G

1 paper

NM_201596.3

p.R101W

c.301C>T

2 papers

NM_201596.3

p.Q102R

c.305A>G

1 paper

NM_201596.3

p.K109R

c.326A>G