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.L480insFs

c.1438dupT

Surrounding Variants

1 paper

NM_201596.3

p.T479S

c.1435A>T

1 paper

NM_201596.3

p.R478H

c.1433G>A

1 paper

NM_201596.3

p.A481S

c.1441G>T

3 papers

NM_201596.3

p.A481V

c.1442C>T

2 papers

NM_201596.3

p.R478C

c.1432C>T

1 paper

NM_201596.3

p.N473T

c.1418A>C

1 paper

NM_201596.3

p.N473D

c.1417A>G

1 paper

NM_201596.3

p.N473Y

c.1417A>T

1 paper

NM_201596.3

p.S488N

c.1463G>A

1 paper

NM_201596.3

p.L491L

c.1473A>G

1 paper

NM_201596.3

p.P467A

c.1399C>G

1 paper

NM_201596.3

p.T464I

c.1391C>T