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

1–12 of 261 variants

9 papers

NM_201596.3

p.S197F

c.590C>T

6 papers

NM_201596.3

p.V2D

c.5T>A

6 papers

NM_201596.3

p.G167S

c.499G>A

6 papers

NM_201596.3

p.S214T

c.641G>C

4 papers

NM_201596.3

p.Q40_S41Splc

c.121-1G>T

3 papers

NM_201590.3

p.T11I

c.32C>T

3 papers

NM_201596.3

p.S73L

c.218C>T

3 papers

NM_201596.3

p.A481V

c.1442C>T

3 papers

NM_201596.3

p.S533F

c.1598C>T

3 papers

NM_201590.3

p.S481L

c.1442C>T

3 papers

NM_201590.3

p.D601E

c.1803T>A

3 papers

NM_201590.3

p.D601E

c.1803T>G