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.C158S

c.473G>C

Surrounding Variants

1 paper

NM_001035.3

p.C158S

c.472T>A

2 papers

NM_001035.3

p.W159C

c.477G>C

2 papers

NM_001035.3

p.W159C

c.477G>T

1 paper

NM_001035.3

p.A157S

c.469G>T

1 paper

NM_001035.3

p.G155_E156ins1

c.465_466insGCG

2 papers

NM_001035.3

p.I162fs

c.484_485fs

9 papers

NM_001035.3

p.G155Splc

c.464-8A>C

24 papers

NM_001035.3

p.P164S

c.490C>T

1 paper

NM_001035.3

p.P164H

c.491C>A

7 papers

NM_001035.3

p.A165D

c.494C>A

1 paper

NM_001035.3

p.G155Splc

c.464-12G>A

3 papers

NM_001035.3

p.S166C

c.497C>G