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

1 paper

NM_001035.3

p.V2321A

c.6962T>C

Surrounding Variants

7 papers

NM_001035.3

p.V2321M

c.6961G>A

1 paper

NM_001035.3

p.V2320M

c.6958G>A

2 papers

NM_001035.3

p.N2318H

c.6952A>C

1 paper

NM_001035.3

p.N2318D

c.6952A>G

1 paper

NM_001035.3

p.I2325F

c.6973A>T

5 papers

NM_001035.3

p.A2317E

c.6950C>A

3 papers

NM_001035.3

p.A2317T

c.6949G>A

111 papers

NM_001035.3

p.P2328S

c.6982C>T

2 papers

NM_001035.3

p.P2328R

c.6983C>G

3 papers

NM_001035.3

p.E2314K

c.6940G>A

1 paper

NM_001035.3

p.E2329K

c.6985G>A

1 paper

NM_001035.3

p.E2329Q

c.6985G>C