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.M1831I

c.5493G>C

Surrounding Variants

1 paper

NM_001035.3

p.M1831I

c.5493G>A

1 paper

NM_001035.3

p.M1831I

c.5493G>T

1 paper

NM_001035.3

p.L1829Q

c.5486T>A

1 paper

NM_001035.3

p.T1827A

c.5479A>G

1 paper

NM_001035.3

p.N1836K

c.5508C>A

1 paper

NM_001035.3

p.N1836K

c.5508C>G

5 papers

NM_001035.3

p.E1837K

c.5509G>A

1 paper

NM_001035.3

p.F1825F

c.5475C>T

1 paper

NM_001035.3

p.F1816ins2

c.5446_5447ins6

1 paper

NM_001035.3

p.P1848R

c.5543C>G

1 paper

NM_001035.3

p.E1815*

c.5443G>T

1 paper

NM_001035.3

p.E1853*

c.5557G>T