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

11 papers

NM_001035.3

p.R169L

c.506G>T

Surrounding Variants

45 papers

NM_001035.3

p.R169Q

c.506G>A

1 paper

NM_001035.3

p.R169G

c.505C>G

1 paper

NM_001035.3

p.R169*

c.505C>T

1 paper

NM_001035.3

p.Q168H

c.504G>T

2 papers

NM_001035.3

p.S170P

c.508T>C

1 paper

NM_001035.3

p.Q168R

c.503A>G

1 paper

NM_001035.3

p.E171del1

c.511_512delGAA

2 papers

NM_001035.3

p.Q168E

c.502C>G

1 paper

NM_001035.3

p.Q168*

c.502C>T

7 papers

NM_001035.3

p.K167E

c.499A>G

1 paper

NM_001035.3

p.G172R

c.514G>A

2 papers

NM_001035.3

p.G172R

c.514G>C