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.E4053V

c.12158A>T

Surrounding Variants

1 paper

NM_001035.3

p.H4055R

c.12164A>G

1 paper

NM_001035.3

p.A4051V

c.12152C>T

1 paper

NM_001035.3

p.K4056R

c.12167A>G

3 papers

NM_001035.3

p.K4056N

c.12168G>C

3 papers

NM_001035.3

p.K4056N

c.12168G>T

1 paper

NM_001035.3

p.Y4058N

c.12172T>A

1 paper

NM_001035.3

p.D4047A

c.12140A>C

1 paper

NM_001035.3

p.T4059T

c.12177G>A

1 paper

NM_001035.3

p.S4061L

c.12182C>T

1 paper

NM_001035.3

p.S4044A

c.12130T>G

2 papers

NM_001035.3

p.T4063M

c.12188C>T

2 papers

NM_001035.3

p.E4064K

c.12190G>A