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.N4178T

c.12533A>C

Surrounding Variants

18 papers

NM_001035.3

p.N4178S

c.12533A>G

3 papers

NM_001035.3

p.N4178Y

c.12532A>T

3 papers

NM_001035.3

p.N4178K

c.12534C>A

3 papers

NM_001035.3

p.N4178K

c.12534C>G

2 papers

NM_001035.3

p.E4179K

c.12535G>A

2 papers

NM_001035.3

p.G4180V

c.12539G>T

1 paper

NM_001035.3

p.V4176A

c.12527T>C

6 papers

NM_001035.3

p.V4176M

c.12526G>A

3 papers

NM_001035.3

p.E4182Q

c.12544G>C

1 paper

NM_001035.3

p.F4174L

c.12522T>A

1 paper

NM_001035.3

p.F4174L

c.12522T>G

3 papers

NM_001035.3

p.E4182A

c.12545A>C