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.F4020S

c.12059T>C

Surrounding Variants

10 papers

NM_001035.3

p.F4020L

c.12060C>A

10 papers

NM_001035.3

p.F4020L

c.12060C>G

10 papers

NM_001035.3

p.F4020L

c.12058T>C

1 paper

NM_001035.3

p.L4021L

c.12061T>C

5 papers

NM_001035.3

p.M4019T

c.12056T>C

3 papers

NM_001035.3

p.M4019R

c.12056T>G

1 paper

NM_001035.3

p.L4021F

c.12063A>C

1 paper

NM_001035.3

p.L4021F

c.12063A>T

1 paper

NM_001035.3

p.K4022_L4023ins1

c.12066_12067insCAA

1 paper

NM_001035.3

p.D4018H

c.12052G>C

2 papers

NM_001035.3

p.F4016Y

c.12047T>A

1 paper

NM_001035.3

p.F4016fs

c.12046_12047fs