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

14 papers

NM_001035.3

p.T415R

c.1244C>G

Surrounding Variants

1 paper

NM_001035.3

p.T415K

c.1244C>A

4 papers

NM_001035.3

p.T415I

c.1244C>T

2 papers

NM_001035.3

p.T415A

c.1243A>G

2 papers

NM_001035.3

p.R414H

c.1241G>A

16 papers

NM_001035.3

p.R414L

c.1241G>T

19 papers

NM_001035.3

p.R414C

c.1240C>T

3 papers

NM_001035.3

p.R417G

c.1249C>G

2 papers

NM_001035.3

p.R417Q

c.1250G>A

1 paper

NM_001035.3

p.R417P

c.1250G>C

3 papers

NM_001035.3

p.R417L

c.1250G>T

2 papers

NM_001035.3

p.S413T

c.1237T>A

1 paper

NM_001035.3

p.E412Q

c.1234G>C