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.E4213D

c.12639G>C

Surrounding Variants

1 paper

NM_001035.3

p.E4213D

c.12639G>T

1 paper

NM_001035.3

p.E4213K

c.12637G>A

1 paper

NM_001035.3

p.A4216V

c.12647C>T

1 paper

NM_001035.3

p.A4216A

c.12648G>A

2 papers

NM_001035.3

p.E4219K

c.12655G>A

1 paper

NM_001035.3

p.S4207S

c.12621G>A

1 paper

NM_001035.3

p.S4207*

c.12620C>A

1 paper

NM_001035.3

p.S4221S

c.12663C>T

1 paper

NM_001035.3

p.K4223del1

c.12667_12669delAAG

3 papers

NM_001035.3

p.A4204V

c.12611C>T

1 paper

NM_001035.3

p.A4203E

c.12608C>A

2 papers

NM_001035.3

p.A4203V

c.12608C>T