Varaico: Literature-Extracted Genetic Variants

RYR1

1,896 papers

RefSeq Summary

This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic re...

Pfam Domains

Ins145_P3_recaa 8–211UCSCInositol 1,4,5-trisphosphate/ryanodine receptor

MIRaa 211–390UCSCMIR domain

RYDR_ITPRaa 441–636UCSCRIH domain

SPRYaa 660–795UCSCSPRY domain

RyRaa 850–940UCSCRyR domain

RyRaa 964–1054UCSCRyR domain

Gene Aliases

HGNC Name

ryanodine receptor 1

HGNC Previous Symbols

MHS; MHS1; CCO

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

20 papers

NM_000540.3

p.R4825C

c.14473C>T

Surrounding Variants

3 papers

NM_000540.3

p.R4825H

c.14474G>A

6 papers

NM_000540.3

p.R4825P

c.14474G>C

17 papers

NM_000540.3

p.L4824P

c.14471T>C

68 papers

NM_000540.3

p.T4826I

c.14477C>T

4 papers

NM_000540.3

p.T4823M

c.14468C>T

1 paper

NM_000540.3

p.K4822del1

c.14464_14465delAAG

2 papers

NM_000540.3

p.L4828R

c.14483T>G

2 papers

NM_000540.3

p.S4829A

c.14485T>G

7 papers

NM_000540.3

p.G4820R

c.14458G>A

7 papers

NM_000540.3

p.G4820R

c.14458G>C

3 papers

NM_000540.3

p.G4820W

c.14458G>T

2 papers

NM_000540.3

p.S4830P

c.14488T>C