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

28 papers

NM_001035.3

p.Y2392C

c.7175A>G

Surrounding Variants

1 paper

NM_001035.3

p.Y2392F

c.7175A>T

1 paper

NM_001035.3

p.F2391L

c.7173C>A

1 paper

NM_001035.3

p.F2391L

c.7173C>G

1 paper

NM_001035.3

p.F2391L

c.7171T>C

7 papers

NM_001035.3

p.A2394G

c.7181C>G

7 papers

NM_001035.3

p.T2390I

c.7169C>T

3 papers

NM_001035.3

p.M2389L

c.7165A>C

3 papers

NM_001035.3

p.M2389L

c.7165A>T

1 paper

NM_001035.3

p.A2387A

c.7161G>A

3 papers

NM_001035.3

p.D2397Y

c.7189G>T

9 papers

NM_001035.3

p.A2387V

c.7160C>T

19 papers

NM_001035.3

p.A2387T

c.7159G>A