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

1 paper

NM_001035.3

p.R4822C

c.14464C>T

Surrounding Variants

7 papers

NM_001035.3

p.R4822H

c.14465G>A

1 paper

NM_001035.3

p.R4822L

c.14465G>T

7 papers

NM_001035.3

p.V4821I

c.14461G>A

2 papers

NM_001035.3

p.G4820A

c.14459G>C

1 paper

NM_001035.3

p.G4820R

c.14458G>A

1 paper

NM_001035.3

p.G4820R

c.14458G>C

8 papers

NM_001035.3

p.G4824A

c.14471G>C

1 paper

NM_001035.3

p.V4819A

c.14456T>C

1 paper

NM_001035.3

p.G4825R

c.14473G>A

1 paper

NM_001035.3

p.G4825R

c.14473G>C

2 papers

NM_001035.3

p.G4825A

c.14474G>C

3 papers

NM_001035.3

p.G4826A

c.14477G>C