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.E4081fs

c.12241_12242fs

Surrounding Variants

1 paper

NM_001035.3

p.E4081K

c.12241G>A

1 paper

NM_001035.3

p.E4081_F4083delFs

c.12242_12248del7

1 paper

NM_001035.3

p.E4081A

c.12242A>C

1 paper

NM_001035.3

p.Y4080Y

c.12240C>T

2 papers

NM_001035.3

p.Y4080C

c.12239A>G

2 papers

NM_001035.3

p.E4082Q

c.12244G>C

1 paper

NM_001035.3

p.E4082A

c.12245A>C

1 paper

NM_001035.3

p.D4079A

c.12236A>C

1 paper

NM_001035.3

p.D4079Y

c.12235G>T

1 paper

NM_001035.3

p.L4078I

c.12232C>A

1 paper

NM_001035.3

p.T4077delFs

c.12230delC

2 papers

NM_001035.3

p.R4086C

c.12256C>T