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.L2344P

c.7031T>C

Surrounding Variants

1 paper

NM_001035.3

p.A2345P

c.7033G>C

1 paper

NM_001035.3

p.A2345S

c.7033G>T

1 paper

NM_001035.3

p.A2345V

c.7034C>T

1 paper

NM_001035.3

p.A2345_A2346insFs

c.7035_7036insTT

1 paper

NM_001035.3

p.A2346fs

c.7036_7037fs

1 paper

NM_001035.3

p.A2346_M2347delFs

c.7038_7039delAA

1 paper

NM_001035.3

p.G2342E

c.7025G>A

6 papers

NM_001035.3

p.G2342R

c.7024G>A

6 papers

NM_001035.3

p.G2342R

c.7024G>C

1 paper

NM_001035.3

p.M2347fs

c.7039_7040fs

2 papers

NM_001035.3

p.E2348G

c.7043A>G

2 papers

NM_001035.3

p.A2350T

c.7048G>A