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.R646W

c.1936C>T

Surrounding Variants

1 paper

NM_201596.3

p.R646fs

c.1936_1937fs

1 paper

NM_201596.3

p.K645N

c.1935A>C

1 paper

NM_201596.3

p.K645N

c.1935A>T

1 paper

NM_201596.3

p.K645fs

c.1933_1934fs

1 paper

NM_201596.3

p.N647I

c.1940A>T

1 paper

NM_201596.3

p.K644fs

c.1930_1931fs

1 paper

NM_201596.3

p.K645insFs

c.1935dupA

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.I642L

c.1924A>T

1 paper

NM_201596.3

p.W652C

c.1956G>C

1 paper

NM_201596.3

p.W652C

c.1956G>T