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

1–12 of 2875 variants

156 papers

NM_001035.3

p.R2474S

c.7422G>C

155 papers

NM_001035.3

p.R176Q

c.527G>A

155 papers

NM_001035.3

p.R2474S

c.7422G>T

111 papers

NM_001035.3

p.P2328S

c.6982C>T

96 papers

NM_001035.3

p.R4497C

c.13489C>T

92 papers

NM_001035.3

p.S2246L

c.6737C>T

87 papers

NM_001035.3

p.R420W

c.1258C>T

78 papers

NM_001035.3

p.L433P

c.1298T>C

77 papers

NM_001035.3

p.R420Q

c.1259G>A

68 papers

NM_001035.3

p.Q4201R

c.12602A>G

65 papers

NM_001035.3

p.A4860G

c.14579C>G

63 papers

NM_001035.3

p.N4104K

c.12312C>A