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.M399I

c.1197G>T

Surrounding Variants

1 paper

NM_001035.3

p.M399I

c.1197G>A

1 paper

NM_001035.3

p.M399I

c.1197G>C

1 paper

NM_001035.3

p.D400N

c.1198G>A

2 papers

NM_001035.3

p.D400H

c.1198G>C

1 paper

NM_001035.3

p.M399R

c.1196T>G

1 paper

NM_001035.3

p.M399L

c.1195A>C

2 papers

NM_001035.3

p.M399V

c.1195A>G

1 paper

NM_001035.3

p.M399L

c.1195A>T

3 papers

NM_001035.3

p.D401G

c.1202A>G

4 papers

NM_001035.3

p.G402S

c.1204G>A

1 paper

NM_001035.3

p.I403M

c.1209A>G

3 papers

NM_001035.3

p.S404R

c.1210A>C