Varaico: Literature-Extracted Genetic Variants

RYR2

1,854 papers

RefSeq Summary

This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine recept...

Pfam Domains

Ins145_P3_recaa 9–223UCSCInositol 1,4,5-trisphosphate/ryanodine receptor

MIRaa 226–406UCSCMIR domain

RYDR_ITPRaa 453–648UCSCRIH domain

SPRYaa 672–807UCSCSPRY domain

RyRaa 862–952UCSCRyR domain

RyRaa 976–1066UCSCRyR domain

Gene Aliases

HGNC Name

ryanodine receptor 2

HGNC Previous Symbol

ARVD2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001035.3

p.R2474K

c.7421G>A

Surrounding Variants

10 papers

NM_001035.3

p.R2474G

c.7420A>G

156 papers

NM_001035.3

p.R2474S

c.7422G>C

155 papers

NM_001035.3

p.R2474S

c.7422G>T

1 paper

NM_001035.3

p.D2473E

c.7419C>A

1 paper

NM_001035.3

p.D2473E

c.7419C>G

25 papers

NM_001035.3

p.V2475F

c.7423G>T

1 paper

NM_001035.3

p.V2475A

c.7424T>C

2 papers

NM_001035.3

p.Y2476D

c.7426T>G

1 paper

NM_001035.3

p.I2478T

c.7433T>C

1 paper

NM_001035.3

p.A2467V

c.7400C>T

34 papers

NM_001035.3

p.F2483I

c.7447T>A

1 paper

NM_001035.3

p.F2483C

c.7448T>G