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.C2330G

c.6988T>G

Surrounding Variants

1 paper

NM_001035.3

p.E2329K

c.6985G>A

1 paper

NM_001035.3

p.E2329Q

c.6985G>C

7 papers

NM_001035.3

p.F2331S

c.6992T>C

2 papers

NM_001035.3

p.P2328R

c.6983C>G

111 papers

NM_001035.3

p.P2328S

c.6982C>T

1 paper

NM_001035.3

p.G2332C

c.6994G>T

1 paper

NM_001035.3

p.I2325F

c.6973A>T

4 papers

NM_001035.3

p.G2337R

c.7009G>A

4 papers

NM_001035.3

p.G2337R

c.7009G>C

1 paper

NM_001035.3

p.G2337_E2338ins5

c.7009_7013ins15

1 paper

NM_001035.3

p.G2337E

c.7010G>A

9 papers

NM_001035.3

p.G2337V

c.7010G>T