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.R1659W

c.4975C>T

Surrounding Variants

1 paper

NM_001035.3

p.L1658V

c.4972C>G

1 paper

NM_001035.3

p.L1660F

c.4978C>T

1 paper

NM_001035.3

p.H1656Q

c.4968C>A

1 paper

NM_001035.3

p.H1656Q

c.4968C>G

1 paper

NM_001035.3

p.A1663A

c.4989C>T

1 paper

NM_001035.3

p.V1664I

c.4990G>A

1 paper

NM_001035.3

p.V1664F

c.4990G>T

5 papers

NM_001035.3

p.K1652E

c.4954A>G

1 paper

NM_001035.3

p.L1667L

c.5001T>A

1 paper

NM_001035.3

p.G1668R

c.5002G>A

3 papers

NM_001035.3

p.N1669S

c.5006A>G

1 paper

NM_001035.3

p.E1648*

c.4942G>T