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.Q4164*

c.12490C>T

Surrounding Variants

3 papers

NM_001035.3

p.Q4164E

c.12490C>G

2 papers

NM_001035.3

p.E4167K

c.12499G>A

2 papers

NM_001035.3

p.S4168T

c.12502T>A

6 papers

NM_001035.3

p.S4168P

c.12502T>C

2 papers

NM_001035.3

p.S4168Y

c.12503C>A

1 paper

NM_001035.3

p.Q4159H

c.12477G>C

1 paper

NM_001035.3

p.Q4159H

c.12477G>T

8 papers

NM_001035.3

p.Q4159P

c.12476A>C

1 paper

NM_001035.3

p.Q4159R

c.12476A>G

7 papers

NM_001035.3

p.Q4159K

c.12475C>A

15 papers

NM_001035.3

p.T4158P

c.12472A>C

11 papers

NM_001035.3

p.R4157Q

c.12470G>A