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.L4858I

c.14572C>A

Surrounding Variants

1 paper

NM_001035.3

p.I4857N

c.14570T>A

1 paper

NM_001035.3

p.I4857S

c.14570T>G

2 papers

NM_001035.3

p.I4857V

c.14569A>G

2 papers

NM_001035.3

p.V4856A

c.14567T>C

1 paper

NM_001035.3

p.A4860D

c.14579C>A

65 papers

NM_001035.3

p.A4860G

c.14579C>G

1 paper

NM_001035.3

p.A4860V

c.14579C>T

29 papers

NM_001035.3

p.I4855M

c.14565T>G

1 paper

NM_001035.3

p.I4861V

c.14581A>G

3 papers

NM_001035.3

p.V4854A

c.14561T>C

2 papers

NM_001035.3

p.I4862T

c.14585T>C

3 papers

NM_001035.3

p.I4862M

c.14586A>G