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.R551W

c.1651A>T

Surrounding Variants

2 papers

NM_201596.3

p.R551G

c.1651A>G

2 papers

NM_201596.3

p.Q552*

c.1654C>T

1 paper

NM_201596.3

p.T554_S557ins1

c.1660_1671dup12

1 paper

NM_201596.3

p.T554K

c.1661C>A

6 papers

NM_000724.4

p.S502L

c.1505C>T

NM_201590.3

p.S503L

c.1508C>T

NM_201597.3

p.S533L

c.1598C>T

NM_201596.3

p.S557L

c.1670C>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.E558G

c.1673A>G

1 paper

NM_000724.4

p.T504I

c.1511C>T

1 paper

NM_201596.3

p.E561E

c.1683G>A

2 papers

NM_201596.3

p.H538Q

c.1614C>A

1 paper

NM_201596.3

p.H538N

c.1612C>A