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.I4666N

c.13997T>A

Surrounding Variants

1 paper

NM_001035.3

p.R4665K

c.13994G>A

5 papers

NM_001035.3

p.L4670V

c.14008C>G

2 papers

NM_001035.3

p.L4670F

c.14008C>T

4 papers

NM_001035.3

p.L4670H

c.14009T>A

15 papers

NM_001035.3

p.G4662S

c.13984G>A

1 paper

NM_001035.3

p.Y4661*

c.13983C>A

1 paper

NM_001035.3

p.Y4661*

c.13983C>G

17 papers

NM_001035.3

p.G4671R

c.14011G>C

1 paper

NM_001035.3

p.G4671C

c.14011G>T

1 paper

NM_001035.3

p.Y4661C

c.13982A>G

7 papers

NM_001035.3

p.G4671V

c.14012G>T

1 paper

NM_001035.3

p.E4659G

c.13976A>G