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.A508T

c.1522G>A

Surrounding Variants

1 paper

NM_201596.3

p.P509L

c.1526C>T

2 papers

NM_201590.3

p.R452C

c.1354C>T

NM_201596.3

p.R506C

c.1516C>T

2 papers

NM_201596.3

p.T504I

c.1511C>T

1 paper

NM_201596.3

p.R503W

c.1507A>T

1 paper

NM_201596.3

p.Q499insFs

c.1495_1496ins4

1 paper

NM_201596.3

p.E518A

c.1553A>C

1 paper

NM_201596.3

p.Q496_G497Splc

c.1489-9C>T

1 paper

NM_201596.3

p.V522M

c.1564G>A

1 paper

NM_201596.3

p.V525G

c.1574T>G

1 paper

NM_201596.3

p.K527*

c.1579A>T

1 paper

NM_201596.3

p.S528_S534del0

c.1582_1602del21

1 paper

NM_201596.3

p.H530Y

c.1588C>T