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.R4503K

c.13508G>A

Surrounding Variants

1 paper

NM_001035.3

p.M4502T

c.13505T>C

13 papers

NM_001035.3

p.M4504I

c.13512G>A

12 papers

NM_001035.3

p.M4504I

c.13512G>C

12 papers

NM_001035.3

p.M4504I

c.13512G>T

1 paper

NM_001035.3

p.Y4500Y

c.13500C>T

15 papers

NM_001035.3

p.F4499C

c.13496T>G

1 paper

NM_001035.3

p.V4509A

c.13526T>C

96 papers

NM_001035.3

p.R4497C

c.13489C>T

14 papers

NM_001035.3

p.A4510T

c.13528G>A

2 papers

NM_001035.3

p.A4510S

c.13528G>T

1 paper

NM_001035.3

p.A4510E

c.13529C>A

1 paper

NM_001035.3

p.A4510V

c.13529C>T