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.D1808N

c.5422G>A

Surrounding Variants

2 papers

NM_001035.3

p.R1807W

c.5419C>T

2 papers

NM_001035.3

p.A1806T

c.5416G>A

13 papers

NM_001035.3

p.V1810L

c.5428G>C

1 paper

NM_001035.3

p.H1805Y

c.5413C>T

1 paper

NM_001035.3

p.E1815*

c.5443G>T

2 papers

NM_001035.3

p.K1800K

c.5400A>G

1 paper

NM_001035.3

p.F1816ins2

c.5446_5447ins6

1 paper

NM_001035.3

p.L1795L

c.5383C>T

1 paper

NM_001035.3

p.K1790R

c.5369A>G

1 paper

NM_001035.3

p.F1825F

c.5475C>T

1 paper

NM_001035.3

p.T1827A

c.5479A>G

1 paper

NM_001035.3

p.L1787I

c.5359C>A