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.Q40_S41Splc

c.121-1G>A

Surrounding Variants

4 papers

NM_201596.3

p.Q40_S41Splc

c.121-1G>T

1 paper

NM_201596.3

p.Q40_S41Splc

c.121-2A>T

1 paper

NM_201596.3

p.S41*

c.122C>A

1 paper

NM_201596.3

p.S41*

c.122C>G

1 paper

NM_201596.3

p.Q40_S41Splc

c.121-4T>G

1 paper

NM_201596.3

p.Y42*

c.126T>A

1 paper

NM_201596.3

p.Y42*

c.126T>G

1 paper

NM_201596.3

p.D56N

c.166G>A

1 paper

NM_201596.3

p.S58N

c.173G>A

1 paper

NM_201596.3

p.R70C

c.208C>T

2 papers

NM_201596.3

p.R70H

c.209G>A

1 paper

NM_201596.3

p.Q40_S41Splc

c.120+366C>G