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

5 papers

NM_000540.3

p.H4887Y

c.14659C>T

Surrounding Variants

1 paper

NM_000540.3

p.F4886L

c.14658T>A

1 paper

NM_000540.3

p.F4886L

c.14658T>G

1 paper

NM_000540.3

p.F4886C

c.14657T>G

1 paper

NM_000540.3

p.F4886L

c.14656T>C

3 papers

NM_000540.3

p.Y4889*

c.14667C>A

5 papers

NM_000540.3

p.Y4889*

c.14667C>G

3 papers

NM_000540.3

p.Y4884H

c.14650T>C

2 papers

NM_000540.3

p.C4883*

c.14649T>A

16 papers

NM_000540.3

p.G4891R

c.14671G>C

1 paper

NM_000540.3

p.C4883_Y4889del0

c.14647_14667del21

1 paper

NM_000540.3

p.V4892I

c.14674G>A

1 paper

NM_000540.3

p.V4892A

c.14675T>C