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

1 paper

NM_000540.3

p.S174delFs

c.520delT

Surrounding Variants

1 paper

NM_000540.3

p.V173G

c.518T>G

1 paper

NM_000540.3

p.S175_E176insG

c.523_527ins3

1 paper

NM_000540.3

p.V171V

c.513C>T

4 papers

NM_000540.3

p.E176K

c.526G>A

1 paper

NM_000540.3

p.E176*

c.526G>T

4 papers

NM_000540.3

p.E176D

c.528G>C

4 papers

NM_000540.3

p.E176D

c.528G>T

13 papers

NM_000540.3

p.R177C

c.529C>T

2 papers

NM_000540.3

p.R177H

c.530G>A

1 paper

NM_000540.3

p.I169I

c.507C>T

7 papers

NM_000540.3

p.Y178C

c.533A>G

1 paper

NM_000540.3

p.L179L

c.535C>T