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.M4406K

c.13217T>A

Surrounding Variants

2 papers

NM_001035.3

p.S4407N

c.13220G>A

1 paper

NM_001035.3

p.D4404G

c.13211A>G

1 paper

NM_001035.3

p.P4409Q

c.13226C>A

1 paper

NM_001035.3

p.P4411L

c.13232C>T

1 paper

NM_001035.3

p.M4412T

c.13235T>C

1 paper

NM_001035.3

p.N4399S

c.13196A>G

1 paper

NM_001035.3

p.L4393L

c.13179G>A

13 papers

NM_001035.3

p.K4392R

c.13175A>G

1 paper

NM_001035.3

p.Q4420_E4421Splc

c.13260+2T>A

1 paper

NM_001035.3

p.G4389V

c.13166G>T

1 paper

NM_001035.3

p.L4384L

c.13152G>T

2 papers

NM_001035.3

p.Q4420_E4421Splc

c.13260+48G>A