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

4 papers

NM_001035.3

p.A1855D

c.5564C>A

Surrounding Variants

5 papers

NM_001035.3

p.P1857L

c.5570C>T

1 paper

NM_001035.3

p.E1853*

c.5557G>T

1 paper

NM_001035.3

p.E1859K

c.5575G>A

1 paper

NM_001035.3

p.E1859D

c.5577G>C

1 paper

NM_001035.3

p.E1859D

c.5577G>T

1 paper

NM_001035.3

p.D1862A

c.5585A>C

1 paper

NM_001035.3

p.P1848R

c.5543C>G

1 paper

NM_001035.3

p.D1862D

c.5586C>T

1 paper

NM_001035.3

p.T1863M

c.5588C>T

1 paper

NM_001035.3

p.E1867Q

c.5599G>C

1 paper

NM_001035.3

p.L1868I

c.5602C>A

1 paper

NM_001035.3

p.D1871D

c.5613C>T