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.D179E

c.537T>A

Surrounding Variants

2 papers

NM_001035.3

p.D179E

c.537T>G

1 paper

NM_001035.3

p.D179A

c.536A>C

2 papers

NM_001035.3

p.D179G

c.536A>G

1 paper

NM_001035.3

p.D180A

c.539A>C

4 papers

NM_001035.3

p.D179N

c.535G>A

1 paper

NM_001035.3

p.L181V

c.541C>G

1 paper

NM_001035.3

p.G178E

c.533G>A

7 papers

NM_001035.3

p.G178A

c.533G>C

1 paper

NM_001035.3

p.V177L

c.529G>C

1 paper

NM_001035.3

p.I182_L183insFs

c.546_547insA

155 papers

NM_001035.3

p.R176Q

c.527G>A

1 paper

NM_001035.3

p.R176P

c.527G>C