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

3 papers

NM_001035.3

p.D458N

c.1372G>A

Surrounding Variants

1 paper

NM_001035.3

p.D458A

c.1373A>C

1 paper

NM_001035.3

p.L459V

c.1375C>G

1 paper

NM_001035.3

p.I460T

c.1379T>C

12 papers

NM_001035.3

p.S453S

c.1359C>T

1 paper

NM_001035.3

p.S453N

c.1358G>A

1 paper

NM_001035.3

p.S453T

c.1358G>C

1 paper

NM_001035.3

p.F463L

c.1389C>A

1 paper

NM_001035.3

p.F463L

c.1389C>G

1 paper

NM_001035.3

p.H464fs

c.1390_1391fs

1 paper

NM_001035.3

p.V452I

c.1354G>A

1 paper

NM_001035.3

p.H464delFs

c.1392delC

1 paper

NM_001035.3

p.P465_P466delFs

c.1395_1396delCC