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.K1734E

c.5200A>G

Surrounding Variants

1 paper

NM_001035.3

p.T1733M

c.5198C>T

1 paper

NM_001035.3

p.T1737P

c.5209A>C

1 paper

NM_001035.3

p.T1730M

c.5189C>T

2 papers

NM_001035.3

p.M1729T

c.5186T>C

1 paper

NM_001035.3

p.Y1725H

c.5173T>C

1 paper

NM_001035.3

p.K1745delFs

c.5235delA

24 papers

NM_001035.3

p.E1724K

c.5170G>A

1 paper

NM_001035.3

p.K1745T

c.5234A>C

1 paper

NM_001035.3

p.G1747S

c.5239G>A

1 paper

NM_001035.3

p.M1720I

c.5160G>A

1 paper

NM_001035.3

p.M1720I

c.5160G>C

1 paper

NM_001035.3

p.M1720I

c.5160G>T