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

7 papers

NM_001035.3

p.V4298M

c.12892G>A

Surrounding Variants

1 paper

NM_001035.3

p.S4300S

c.12900C>T

1 paper

NM_001035.3

p.L4294I

c.12880C>A

1 paper

NM_001035.3

p.F4291L

c.12873C>A

1 paper

NM_001035.3

p.F4291L

c.12873C>G

1 paper

NM_001035.3

p.F4291L

c.12871T>C

2 papers

NM_001035.3

p.F4306S

c.12917T>C

12 papers

NM_001035.3

p.R4307C

c.12919C>T

1 paper

NM_001035.3

p.R4307L

c.12920G>T

1 paper

NM_001035.3

p.Y4287*

c.12861C>A

1 paper

NM_001035.3

p.Y4287*

c.12861C>G

1 paper

NM_001035.3

p.I4308I

c.12924C>A

2 papers

NM_001035.3

p.Y4287H

c.12859T>C