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

5 papers

NM_001035.3

p.H464Q

c.1392C>G

Surrounding Variants

6 papers

NM_001035.3

p.H464Q

c.1392C>A

1 paper

NM_001035.3

p.H464delFs

c.1392delC

1 paper

NM_001035.3

p.P465_P466delFs

c.1395_1396delCC

1 paper

NM_001035.3

p.P465fs

c.1393_1394fs

1 paper

NM_001035.3

p.P465_P466insGCG

c.1393_1397ins9

1 paper

NM_001035.3

p.H464fs

c.1390_1391fs

1 paper

NM_001035.3

p.P465L

c.1394C>T

1 paper

NM_001035.3

p.F463L

c.1389C>A

1 paper

NM_001035.3

p.F463L

c.1389C>G

10 papers

NM_001035.3

p.P466A

c.1396C>G

1 paper

NM_001035.3

p.P466S

c.1396C>T

1 paper

NM_001035.3

p.H469Y

c.1405C>T