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

2 papers

NM_001035.3

p.V4010M

c.12028G>A

Surrounding Variants

1 paper

NM_001035.3

p.S4006F

c.12017C>T

2 papers

NM_001035.3

p.S4006T

c.12016T>A

3 papers

NM_001035.3

p.E4005V

c.12014A>T

1 paper

NM_001035.3

p.K4015delFs

c.12045delA

1 paper

NM_001035.3

p.F4016delFs

c.12046delT

1 paper

NM_001035.3

p.F4016fs

c.12046_12047fs

2 papers

NM_001035.3

p.F4016Y

c.12047T>A

10 papers

NM_001035.3

p.M4002I

c.12006G>A

8 papers

NM_001035.3

p.M4002I

c.12006G>C

8 papers

NM_001035.3

p.M4002I

c.12006G>T

3 papers

NM_001035.3

p.M4002V

c.12004A>G

1 paper

NM_001035.3

p.D4018H

c.12052G>C