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.T4254T

c.12762C>T

Surrounding Variants

1 paper

NM_001035.3

p.R4257*

c.12769C>T

4 papers

NM_001035.3

p.R4257Q

c.12770G>A

1 paper

NM_001035.3

p.N4251D

c.12751A>G

1 paper

NM_001035.3

p.L4261_S4263del0

c.12781_12789del9

2 papers

NM_001035.3

p.A4247V

c.12740C>T

1 paper

NM_001035.3

p.K4265insFs

c.12793_12794ins5

1 paper

NM_001035.3

p.K4265fs

c.12793_12794fs

1 paper

NM_001035.3

p.A4244V

c.12731C>T

1 paper

NM_001035.3

p.A4244fs

c.12730_12731fs

1 paper

NM_001035.3

p.S4243W

c.12728C>G

1 paper

NM_001035.3

p.S4243insFs

c.12728dupC

1 paper

NM_001035.3

p.Q4267*

c.12799C>T