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.R417L

c.1250G>T

Surrounding Variants

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.R417G

c.1249C>G

18 papers

NM_001035.3

p.I419F

c.1255A>T

1 paper

NM_001035.3

p.T415K

c.1244C>A

14 papers

NM_001035.3

p.T415R

c.1244C>G

4 papers

NM_001035.3

p.T415I

c.1244C>T

2 papers

NM_001035.3

p.T415A

c.1243A>G

87 papers

NM_001035.3

p.R420W

c.1258C>T

77 papers

NM_001035.3

p.R420Q

c.1259G>A

2 papers

NM_001035.3

p.R414H

c.1241G>A

16 papers

NM_001035.3

p.R414L

c.1241G>T