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.Q4201H

c.12603G>C

Surrounding Variants

1 paper

NM_001035.3

p.Q4201H

c.12603G>T

68 papers

NM_001035.3

p.Q4201R

c.12602A>G

2 papers

NM_001035.3

p.Q4201K

c.12601C>A

1 paper

NM_001035.3

p.A4203E

c.12608C>A

2 papers

NM_001035.3

p.A4203V

c.12608C>T

3 papers

NM_001035.3

p.A4204V

c.12611C>T

1 paper

NM_001035.3

p.F4198ins2

c.12593_12594ins6

2 papers

NM_001035.3

p.I4197L

c.12589A>C

3 papers

NM_001035.3

p.I4197V

c.12589A>G

8 papers

NM_001035.3

p.T4196I

c.12587C>T

10 papers

NM_001035.3

p.T4196A

c.12586A>G

1 paper

NM_001035.3

p.S4207*

c.12620C>A