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

63 papers

NM_001035.3

p.N4104K

c.12312C>G

Surrounding Variants

63 papers

NM_001035.3

p.N4104K

c.12312C>A

10 papers

NM_001035.3

p.N4104I

c.12311A>T

13 papers

NM_001035.3

p.L4105F

c.12313C>T

1 paper

NM_001035.3

p.T4103K

c.12308C>A

2 papers

NM_001035.3

p.E4107A

c.12320A>C

12 papers

NM_001035.3

p.H4108N

c.12322C>A

2 papers

NM_001035.3

p.H4108Y

c.12322C>T

8 papers

NM_001035.3

p.L4101F

c.12301C>T

10 papers

NM_001035.3

p.H4108Q

c.12324C>A

10 papers

NM_001035.3

p.H4108Q

c.12324C>G

1 paper

NM_001035.3

p.V4100I

c.12298G>A

1 paper

NM_001035.3

p.M4109T

c.12326T>C