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.K2212N

c.6636A>C

Surrounding Variants

4 papers

NM_001035.3

p.K2212N

c.6636A>T

6 papers

NM_001035.3

p.A2213S

c.6637G>T

1 paper

NM_001035.3

p.Q2211P

c.6632A>C

1 paper

NM_001035.3

p.Q2211delFs

c.6632delA

6 papers

NM_001035.3

p.F2215L

c.6643T>C

5 papers

NM_001035.3

p.F2215L

c.6645T>A

5 papers

NM_001035.3

p.F2215L

c.6645T>G

2 papers

NM_001035.3

p.D2216H

c.6646G>C

1 paper

NM_001035.3

p.D2216A

c.6647A>C

4 papers

NM_001035.3

p.D2216G

c.6647A>G

3 papers

NM_001035.3

p.D2216V

c.6647A>T

6 papers

NM_001035.3

p.H2217Y

c.6649C>T