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.V4190M

c.12568G>A

Surrounding Variants

1 paper

NM_001035.3

p.V4190L

c.12568G>C

1 paper

NM_001035.3

p.V4190L

c.12568G>T

2 papers

NM_001035.3

p.V4190G

c.12569T>G

1 paper

NM_001035.3

p.F4189fs

c.12565_12566fs

1 paper

NM_001035.3

p.L4188_F4189insFs

c.12564_12565ins5

7 papers

NM_001035.3

p.L4188P

c.12563T>C

3 papers

NM_001035.3

p.E4187K

c.12559G>A

6 papers

NM_001035.3

p.E4187Q

c.12559G>C

2 papers

NM_001035.3

p.C4193Y

c.12578G>A

7 papers

NM_001035.3

p.C4193W

c.12579C>G

2 papers

NM_001035.3

p.D4195N

c.12583G>A

1 paper

NM_001035.3

p.D4195A

c.12584A>C