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.R2359*

c.7075C>T

Surrounding Variants

14 papers

NM_001035.3

p.R2359Q

c.7076G>A

1 paper

NM_001035.3

p.P2357L

c.7070C>T

1 paper

NM_001035.3

p.P2357S

c.7069C>T

1 paper

NM_001035.3

p.G2361V

c.7082G>T

1 paper

NM_001035.3

p.E2355K

c.7063G>A

1 paper

NM_001035.3

p.A2354T

c.7060G>A

1 paper

NM_001035.3

p.N2365D

c.7093A>G

1 paper

NM_001035.3

p.I2351T

c.7052T>C

12 papers

NM_001035.3

p.G2367R

c.7099G>A

10 papers

NM_001035.3

p.G2367R

c.7099G>C

2 papers

NM_001035.3

p.A2350T

c.7048G>A

1 paper

NM_001035.3

p.A2350insFs

c.7050dupC