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.A4356V

c.13067C>T

Surrounding Variants

2 papers

NM_001035.3

p.E4361Q

c.13081G>C

1 paper

NM_001035.3

p.E4368*

c.13102G>T

1 paper

NM_001035.3

p.R4343I

c.13028G>T

1 paper

NM_001035.3

p.Q4339R

c.13016A>G

1 paper

NM_001035.3

p.D4374Y

c.13120G>T

1 paper

NM_001035.3

p.P4337R

c.13010C>G

1 paper

NM_001035.3

p.P4335L

c.13004C>T

1 paper

NM_001035.3

p.A4328T

c.12982G>A

1 paper

NM_001035.3

p.L4384L

c.13152G>T

1 paper

NM_001035.3

p.K4324E

c.12970A>G

1 paper

NM_001035.3

p.G4389V

c.13166G>T

13 papers

NM_001035.3

p.K4392R

c.13175A>G