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.H1710Y

c.5128C>T

Surrounding Variants

3 papers

NM_001035.3

p.H1710N

c.5128C>A

1 paper

NM_001035.3

p.L1706M

c.5116C>A

1 paper

NM_001035.3

p.D1704A

c.5111A>C

1 paper

NM_001035.3

p.A1717S

c.5149G>T

1 paper

NM_001035.3

p.Y1702*

c.5106C>A

1 paper

NM_001035.3

p.Y1702*

c.5106C>G

1 paper

NM_001035.3

p.Y1702C

c.5105A>G

1 paper

NM_001035.3

p.R1718G

c.5152A>G

1 paper

NM_001035.3

p.Y1702fs

c.5104_5105fs

1 paper

NM_001035.3

p.G1701_Y1702insFs

c.5103_5104ins5

2 papers

NM_001035.3

p.G1701A

c.5102G>C

1 paper

NM_001035.3

p.R1718S

c.5154G>C