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

2 papers

NM_000540.3

p.G165A

c.494G>C

Surrounding Variants

5 papers

NM_000540.3

p.G165R

c.493G>A

1 paper

NM_000540.3

p.G165G

c.495G>A

5 papers

NM_000540.3

p.G165R

c.493G>C

1 paper

NM_000540.3

p.G165G

c.495G>C

12 papers

NM_000540.3

p.D166N

c.496G>A

1 paper

NM_000540.3

p.V164_G165insFs

c.492_493ins4

3 papers

NM_000540.3

p.D166G

c.497A>G

2 papers

NM_000540.3

p.V164F

c.490G>T

1 paper

NM_000540.3

p.D167N

c.499G>A

2 papers

NM_000540.3

p.D167G

c.500A>G

1 paper

NM_000540.3

p.R163H

c.488G>A

21 papers

NM_000540.3

p.R163L

c.488G>T