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.E173G

c.518A>G

Surrounding Variants

1 paper

NM_001035.3

p.E173A

c.518A>C

3 papers

NM_001035.3

p.G172E

c.515G>A

1 paper

NM_001035.3

p.G172R

c.514G>A

2 papers

NM_001035.3

p.G172R

c.514G>C

1 paper

NM_001035.3

p.R176*

c.526C>T

1 paper

NM_001035.3

p.E171del1

c.511_512delGAA

155 papers

NM_001035.3

p.R176Q

c.527G>A

1 paper

NM_001035.3

p.R176P

c.527G>C

7 papers

NM_001035.3

p.R176L

c.527G>T

2 papers

NM_001035.3

p.S170P

c.508T>C

1 paper

NM_001035.3

p.V177L

c.529G>C

45 papers

NM_001035.3

p.R169Q

c.506G>A