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.S408F

c.1223C>T

Surrounding Variants

5 papers

NM_001035.3

p.R407S

c.1221A>C

6 papers

NM_001035.3

p.R407S

c.1221A>T

3 papers

NM_001035.3

p.R407I

c.1220G>T

1 paper

NM_001035.3

p.H410Y

c.1228C>T

36 papers

NM_001035.3

p.S406L

c.1217C>T

1 paper

NM_001035.3

p.S406P

c.1216T>C

1 paper

NM_001035.3

p.E412Q

c.1234G>C

3 papers

NM_001035.3

p.S404R

c.1212T>A

3 papers

NM_001035.3

p.S404R

c.1212T>G

1 paper

NM_001035.3

p.S404_L405insFs

c.1212_1213insT

3 papers

NM_001035.3

p.S404R

c.1210A>C

1 paper

NM_001035.3

p.I403M

c.1209A>G