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

11 papers

NM_001035.3

p.A2254V

c.6761C>T

Surrounding Variants

2 papers

NM_001035.3

p.R2258C

c.6772C>T

2 papers

NM_001035.3

p.N2250I

c.6749A>T

1 paper

NM_001035.3

p.R2258H

c.6773G>A

4 papers

NM_001035.3

p.P2260L

c.6779C>T

1 paper

NM_001035.3

p.M2248V

c.6742A>G

92 papers

NM_001035.3

p.S2246L

c.6737C>T

1 paper

NM_001035.3

p.K2264N

c.6792G>C

2 papers

NM_001035.3

p.K2264N

c.6792G>T

1 paper

NM_001035.3

p.D2241G

c.6722A>G

5 papers

NM_001035.3

p.A2230Splc

c.6688+72T>G

1 paper

NM_001035.3

p.A2230Splc

c.6688+43A>G

1 paper

NM_001035.3

p.L2229P

c.6686T>C