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

3 papers

NM_001035.3

p.G2228V

c.6683G>T

Surrounding Variants

1 paper

NM_001035.3

p.G2228C

c.6682G>T

1 paper

NM_001035.3

p.L2229F

c.6685C>T

1 paper

NM_001035.3

p.L2229P

c.6686T>C

1 paper

NM_001035.3

p.V2227I

c.6679G>A

1 paper

NM_001035.3

p.N2224N

c.6672C>T

6 papers

NM_001035.3

p.H2217Y

c.6649C>T

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

2 papers

NM_001035.3

p.D2216H

c.6646G>C

5 papers

NM_001035.3

p.F2215L

c.6645T>A

5 papers

NM_001035.3

p.F2215L

c.6645T>G