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

9 papers

NM_001035.3

p.G3946A

c.11837G>C

Surrounding Variants

3 papers

NM_001035.3

p.G3946D

c.11837G>A

1 paper

NM_001035.3

p.G3946V

c.11837G>T

44 papers

NM_001035.3

p.G3946S

c.11836G>A

2 papers

NM_001035.3

p.A3943T

c.11827G>A

1 paper

NM_001035.3

p.W3941R

c.11821T>A

1 paper

NM_001035.3

p.W3941R

c.11821T>C

1 paper

NM_001035.3

p.L3940P

c.11819T>C

9 papers

NM_001035.3

p.S3938R

c.11814C>A

9 papers

NM_001035.3

p.S3938R

c.11814C>G

9 papers

NM_001035.3

p.S3938R

c.11812A>C

4 papers

NM_001035.3

p.S3938G

c.11812A>G

2 papers

NM_001035.3

p.Q3955K

c.11863C>A