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

35 papers

NM_001035.3

p.R4959Q

c.14876G>A

Surrounding Variants

2 papers

NM_001035.3

p.R4959W

c.14875C>T

1 paper

NM_001035.3

p.K4960Q

c.14878A>C

2 papers

NM_001035.3

p.C4957C

c.14871C>T

1 paper

NM_001035.3

p.Q4961*

c.14881C>T

2 papers

NM_001035.3

p.C4957S

c.14870G>C

2 papers

NM_001035.3

p.C4957S

c.14869T>A

3 papers

NM_001035.3

p.Y4962N

c.14884T>A

1 paper

NM_001035.3

p.D4956E

c.14868T>A

1 paper

NM_001035.3

p.D4956E

c.14868T>G

1 paper

NM_001035.3

p.D4956A

c.14867A>C

8 papers

NM_001035.3

p.Y4962C

c.14885A>G

1 paper

NM_001035.3

p.Y4962*

c.14886T>A