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

5 papers

NM_001035.3

p.S4124R

c.12372C>G

Surrounding Variants

5 papers

NM_001035.3

p.S4124R

c.12372C>A

5 papers

NM_001035.3

p.S4124N

c.12371G>A

3 papers

NM_001035.3

p.V4125I

c.12373G>A

7 papers

NM_001035.3

p.S4124T

c.12371G>C

1 paper

NM_001035.3

p.V4125F

c.12373G>T

5 papers

NM_001035.3

p.S4124R

c.12370A>C

9 papers

NM_001035.3

p.S4124G

c.12370A>G

1 paper

NM_001035.3

p.V4125V

c.12375C>G

2 papers

NM_001035.3

p.F4129V

c.12385T>G

1 paper

NM_001035.3

p.P4131H

c.12392C>A

2 papers

NM_001035.3

p.G4134C

c.12400G>T

17 papers

NM_001035.3

p.L4115F

c.12343C>T