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.G4134C

c.12400G>T

Surrounding Variants

2 papers

NM_001035.3

p.G4134V

c.12401G>T

1 paper

NM_001035.3

p.R4135C

c.12403C>T

1 paper

NM_001035.3

p.R4135L

c.12404G>T

1 paper

NM_001035.3

p.P4131H

c.12392C>A

1 paper

NM_001035.3

p.E4137K

c.12409G>A

3 papers

NM_001035.3

p.M4139V

c.12415A>G

2 papers

NM_001035.3

p.F4129V

c.12385T>G

5 papers

NM_001035.3

p.G4140E

c.12419G>A

1 paper

NM_001035.3

p.G4140A

c.12419G>C

1 paper

NM_001035.3

p.S4141R

c.12421A>C

1 paper

NM_001035.3

p.S4141G

c.12421A>G

1 paper

NM_001035.3

p.S4141R

c.12423C>A