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

2 papers

NM_001035.3

p.P4231L

c.12692C>T

Surrounding Variants

1 paper

NM_001035.3

p.R4232M

c.12695G>T

1 paper

NM_001035.3

p.Q4229*

c.12685C>T

1 paper

NM_001035.3

p.M4233I

c.12699G>A

1 paper

NM_001035.3

p.M4233I

c.12699G>C

1 paper

NM_001035.3

p.M4233I

c.12699G>T

1 paper

NM_001035.3

p.F4236V

c.12706T>G

1 paper

NM_001035.3

p.S4237fs

c.12709_12710fs

1 paper

NM_001035.3

p.R4225K

c.12674G>A

1 paper

NM_001035.3

p.R4225delFs

c.12674delG

1 paper

NM_001035.3

p.I4238insFs

c.12712dupA

2 papers

NM_001035.3

p.I4238S

c.12713T>G

4 papers

NM_001035.3

p.E4224*

c.12670G>T