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.Q4945R

c.14834A>G

Surrounding Variants

3 papers

NM_001035.3

p.Q4945ins1

c.14834_14835insTCA

4 papers

NM_001035.3

p.Y4944_Q4945insH

c.14830_14834ins3

3 papers

NM_001035.3

p.W4949R

c.14845T>A

4 papers

NM_001035.3

p.W4949R

c.14845T>C

1 paper

NM_001035.3

p.W4941R

c.14821T>A

1 paper

NM_001035.3

p.W4941R

c.14821T>C

27 papers

NM_001035.3

p.E4950K

c.14848G>A

1 paper

NM_001035.3

p.E4950G

c.14849A>G

1 paper

NM_001035.3

p.V4940I

c.14818G>A

3 papers

NM_001035.3

p.Y4939F

c.14816A>T

20 papers

NM_001035.3

p.S4938F

c.14813C>T

1 paper

NM_001035.3

p.E4937A

c.14810A>C