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

13 papers

NM_001035.3

p.E189D

c.567A>C

Surrounding Variants

12 papers

NM_001035.3

p.E189D

c.567A>T

2 papers

NM_001035.3

p.R190G

c.568A>G

2 papers

NM_001035.3

p.R190W

c.568A>T

1 paper

NM_001035.3

p.R190S

c.570G>C

1 paper

NM_001035.3

p.R190S

c.570G>T

1 paper

NM_001035.3

p.L192F

c.576G>C

16 papers

NM_001035.3

p.V186M

c.556G>A

2 papers

NM_001035.3

p.S185N

c.554G>A

1 paper

NM_001035.3

p.V184fs

c.550_551fs

1 paper

NM_001035.3

p.L183F

c.549A>T

1 paper

NM_001035.3

p.I182_L183insFs

c.546_547insA

1 paper

NM_001035.3

p.L181V

c.541C>G