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

13 papers

NM_001035.3

p.S4153R

c.12459T>G

Surrounding Variants

13 papers

NM_001035.3

p.S4153R

c.12459T>A

1 paper

NM_001035.3

p.E4154K

c.12460G>A

5 papers

NM_001035.3

p.S4153I

c.12458G>T

13 papers

NM_001035.3

p.S4153R

c.12457A>C

2 papers

NM_001035.3

p.I4152N

c.12455T>A

3 papers

NM_001035.3

p.S4155Y

c.12464C>A

1 paper

NM_001035.3

p.R4157*

c.12469C>T

11 papers

NM_001035.3

p.R4157Q

c.12470G>A

15 papers

NM_001035.3

p.T4158P

c.12472A>C

6 papers

NM_001035.3

p.Y4149S

c.12446A>C

3 papers

NM_001035.3

p.Y4149C

c.12446A>G

7 papers

NM_001035.3

p.Q4159K

c.12475C>A