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

33 papers

NM_001035.3

p.M4109R

c.12326T>G

Surrounding Variants

1 paper

NM_001035.3

p.M4109T

c.12326T>C

10 papers

NM_001035.3

p.H4108Q

c.12324C>A

10 papers

NM_001035.3

p.H4108Q

c.12324C>G

12 papers

NM_001035.3

p.H4108N

c.12322C>A

2 papers

NM_001035.3

p.H4108Y

c.12322C>T

4 papers

NM_001035.3

p.N4111H

c.12331A>C

2 papers

NM_001035.3

p.E4107A

c.12320A>C

7 papers

NM_001035.3

p.D4112N

c.12334G>A

13 papers

NM_001035.3

p.L4105F

c.12313C>T

63 papers

NM_001035.3

p.N4104K

c.12312C>A

63 papers

NM_001035.3

p.N4104K

c.12312C>G

1 paper

NM_001035.3

p.R4114*

c.12340C>T