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.I4094V

c.12280A>G

Surrounding Variants

1 paper

NM_001035.3

p.I4094M

c.12282C>G

6 papers

NM_001035.3

p.G4095S

c.12283G>A

2 papers

NM_001035.3

p.G4095D

c.12284G>A

1 paper

NM_001035.3

p.A4091G

c.12272C>G

13 papers

NM_001035.3

p.A4091V

c.12272C>T

8 papers

NM_001035.3

p.A4091T

c.12271G>A

15 papers

NM_001035.3

p.N4097S

c.12290A>G

1 paper

NM_001035.3

p.P4090S

c.12268C>T

1 paper

NM_001035.3

p.A4099V

c.12296C>T

1 paper

NM_001035.3

p.V4100I

c.12298G>A

8 papers

NM_001035.3

p.L4101F

c.12301C>T

1 paper

NM_001035.3

p.R4086R

c.12258C>T