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

10 papers

NM_001035.3

p.F4851L

c.14553C>A

Surrounding Variants

9 papers

NM_001035.3

p.F4851L

c.14553C>G

5 papers

NM_001035.3

p.F4851C

c.14552T>G

9 papers

NM_001035.3

p.F4851L

c.14551T>C

1 paper

NM_001035.3

p.F4850L

c.14550C>A

1 paper

NM_001035.3

p.F4850L

c.14550C>G

1 paper

NM_001035.3

p.F4850L

c.14548T>C

1 paper

NM_001035.3

p.T4849S

c.14546C>G

2 papers

NM_001035.3

p.T4849A

c.14545A>G

1 paper

NM_001035.3

p.T4849S

c.14545A>T

3 papers

NM_001035.3

p.V4854A

c.14561T>C

17 papers

NM_001035.3

p.I4848V

c.14542A>G

29 papers

NM_001035.3

p.I4855M

c.14565T>G