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_000724.4

p.A481V

c.1442C>T

Surrounding Variants

4 papers

NM_201590.3

p.S481L

c.1442C>T

NM_000724.4

p.S480L

c.1439C>T

NM_201596.3

p.S535L

c.1604C>T

1 paper

NM_201596.3

p.H538N

c.1612C>A

1 paper

NM_201590.3

p.S480F

c.1439C>T

2 papers

NM_201596.3

p.H538Q

c.1614C>A

3 papers

NM_201596.3

p.S533F

c.1598C>T

1 paper

NM_201596.3

p.R531G

c.1591C>G

1 paper

NM_000724.4

p.R476C

c.1426C>T

1 paper

NM_201596.3

p.H530Y

c.1588C>T

3 papers

NM_000724.4

p.G489R

c.1465G>A

NM_201596.3

p.G544R

c.1630G>A

2 papers

NM_000724.4

p.G489R

c.1465G>C

1 paper

NM_201596.3

p.S528_S534del0

c.1582_1602del21

1 paper

NM_201596.3

p.K527*

c.1579A>T