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

6 papers

NM_201596.3

p.S214T

c.641G>C

Surrounding Variants

1 paper

NM_201596.3

p.S214I

c.641G>T

1 paper

NM_201596.3

p.R216G

c.646A>G

1 paper

NM_201596.3

p.L208S

c.623T>C

1 paper

NM_201596.3

p.P221A

c.661C>G

1 paper

NM_201596.3

p.S223Y

c.668C>A

1 paper

NM_201596.3

p.A224Splc

c.670+9G>A

1 paper

NM_201596.3

p.S198Splc

c.594-4C>G

1 paper

NM_201596.3

p.S198Splc

c.594-4C>T

1 paper

NM_201596.3

p.S198Splc

c.593+4T>G

12 papers

NM_000724.4

p.S142F

c.425C>T

NM_201596.3

p.S197F

c.590C>T

NM_201590.3

p.S143F

c.428C>T

1 paper

NM_201596.3

p.E187*

c.559G>T

1 paper

NM_201596.3

p.E180*

c.538G>T