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.F4065L

c.12193T>C

Surrounding Variants

1 paper

NM_001035.3

p.F4065L

c.12195T>A

1 paper

NM_001035.3

p.F4065L

c.12195T>G

2 papers

NM_001035.3

p.E4064K

c.12190G>A

2 papers

NM_001035.3

p.T4063M

c.12188C>T

1 paper

NM_001035.3

p.L4067S

c.12200T>C

1 paper

NM_001035.3

p.S4061L

c.12182C>T

1 paper

NM_001035.3

p.C4069S

c.12205T>A

1 paper

NM_001035.3

p.C4069S

c.12206G>C

1 paper

NM_001035.3

p.A4070T

c.12208G>A

1 paper

NM_001035.3

p.T4059T

c.12177G>A

1 paper

NM_001035.3

p.E4071*

c.12211G>T

1 paper

NM_001035.3

p.E4071A

c.12212A>C