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.K1884_G1885delins

c.5652_5653delinsTT

Surrounding Variants

1 paper

NM_001035.3

p.K1884N

c.5652G>C

1 paper

NM_001035.3

p.K1884N

c.5652G>T

1 paper

NM_001035.3

p.G1885W

c.5653G>T

38 papers

NM_001035.3

p.G1885E

c.5654G>A

1 paper

NM_001035.3

p.A1883D

c.5648C>A

40 papers

NM_001035.3

p.G1886S

c.5656G>A

1 paper

NM_001035.3

p.G1886D

c.5657G>A

1 paper

NM_001035.3

p.R1888W

c.5662C>T

2 papers

NM_001035.3

p.L1893_L1894insC

c.5677_5681ins3

1 paper

NM_001035.3

p.L1875L

c.5625G>T

3 papers

NM_001035.3

p.L1894I

c.5680C>A

1 paper

NM_001035.3

p.L1894F

c.5680C>T