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.S1756C

c.5267C>G

Surrounding Variants

2 papers

NM_001035.3

p.S1754T

c.5261G>C

10 papers

NM_001035.3

p.R1760W

c.5278C>T

1 paper

NM_001035.3

p.G1752D

c.5255G>A

1 paper

NM_001035.3

p.M1761L

c.5281A>C

1 paper

NM_001035.3

p.M1761L

c.5281A>T

3 papers

NM_001035.3

p.G1750R

c.5248G>A

3 papers

NM_001035.3

p.G1750R

c.5248G>C

1 paper

NM_001035.3

p.P1749R

c.5246C>G

1 paper

NM_001035.3

p.F1763S

c.5288T>C

1 paper

NM_001035.3

p.F1763C

c.5288T>G

7 papers

NM_001035.3

p.S1765C

c.5294C>G

1 paper

NM_001035.3

p.G1747S

c.5239G>A