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

155 papers

NM_001035.3

p.R176Q

c.527G>A

Surrounding Variants

1 paper

NM_001035.3

p.R176P

c.527G>C

7 papers

NM_001035.3

p.R176L

c.527G>T

1 paper

NM_001035.3

p.R176*

c.526C>T

1 paper

NM_001035.3

p.V177L

c.529G>C

1 paper

NM_001035.3

p.G178E

c.533G>A

7 papers

NM_001035.3

p.G178A

c.533G>C

4 papers

NM_001035.3

p.D179N

c.535G>A

1 paper

NM_001035.3

p.E173A

c.518A>C

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.E173G

c.518A>G

1 paper

NM_001035.3

p.D179E

c.537T>A