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_201590.3

p.R573C

c.1717C>T

Surrounding Variants

2 papers

NM_201596.3

p.R627H

c.1880G>A

1 paper

NM_201596.3

p.S626N

c.1877G>A

1 paper

NM_201596.3

p.S626I

c.1877G>T

1 paper

NM_201596.3

p.H628P

c.1883A>C

2 papers

NM_201596.3

p.R625C

c.1873C>T

1 paper

NM_201596.3

p.Q616R

c.1847A>G

1 paper

NM_201596.3

p.D638N

c.1912G>A

1 paper

NM_201596.3

p.I642L

c.1924A>T

1 paper

NM_201596.3

p.I642T

c.1925T>C

1 paper

NM_201596.3

p.K644insFs

c.1930_1931ins4

1 paper

NM_201596.3

p.K645insFs

c.1935dupA

1 paper

NM_201596.3

p.K644fs

c.1930_1931fs