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

3 papers

NM_001035.3

p.D2397Y

c.7189G>T

Surrounding Variants

1 paper

NM_001035.3

p.L2399*

c.7196T>A

7 papers

NM_001035.3

p.A2394G

c.7181C>G

1 paper

NM_001035.3

p.G2400R

c.7198G>A

1 paper

NM_001035.3

p.G2400R

c.7198G>C

7 papers

NM_001035.3

p.G2400V

c.7199G>T

3 papers

NM_001035.3

p.R2401C

c.7201C>T

32 papers

NM_001035.3

p.R2401H

c.7202G>A

6 papers

NM_001035.3

p.R2401L

c.7202G>T

28 papers

NM_001035.3

p.Y2392C

c.7175A>G

1 paper

NM_001035.3

p.Y2392F

c.7175A>T

1 paper

NM_001035.3

p.C2402S

c.7204T>A

2 papers

NM_001035.3

p.C2402R

c.7204T>C