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.E2311E

c.6933G>A

Surrounding Variants

29 papers

NM_001035.3

p.E2311D

c.6933G>C

29 papers

NM_001035.3

p.E2311D

c.6933G>T

2 papers

NM_001035.3

p.V2313L

c.6937G>C

2 papers

NM_001035.3

p.V2313L

c.6937G>T

1 paper

NM_001035.3

p.V2313V

c.6939G>T

3 papers

NM_001035.3

p.E2314K

c.6940G>A

3 papers

NM_001035.3

p.A2317T

c.6949G>A

5 papers

NM_001035.3

p.A2317E

c.6950C>A

2 papers

NM_001035.3

p.N2318H

c.6952A>C

1 paper

NM_001035.3

p.N2318D

c.6952A>G

1 paper

NM_001035.3

p.V2320M

c.6958G>A

7 papers

NM_001035.3

p.V2321M

c.6961G>A