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

3 papers

NM_001035.3

p.M3999T

c.11996T>C

Surrounding Variants

2 papers

NM_001035.3

p.M3999L

c.11995A>C

8 papers

NM_001035.3

p.M3999V

c.11995A>G

2 papers

NM_001035.3

p.M3999L

c.11995A>T

3 papers

NM_001035.3

p.M3999I

c.11997G>A

2 papers

NM_001035.3

p.M3999I

c.11997G>C

2 papers

NM_001035.3

p.M3999I

c.11997G>T

1 paper

NM_001035.3

p.Q3998*

c.11992C>T

2 papers

NM_001035.3

p.D4001G

c.12002A>G

7 papers

NM_001035.3

p.K3997E

c.11989A>G

3 papers

NM_001035.3

p.M4002V

c.12004A>G

10 papers

NM_001035.3

p.M4002I

c.12006G>A

8 papers

NM_001035.3

p.M4002I

c.12006G>C