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.G3938A

c.11813G>C

Surrounding Variants

4 papers

NM_000540.3

p.G3938D

c.11813G>A

1 paper

NM_000540.3

p.S3937L

c.11810C>T

1 paper

NM_000540.3

p.I3942T

c.11825T>C

49 papers

NM_000540.3

p.Y3933C

c.11798A>G

1 paper

NM_000540.3

p.F3932L

c.11796C>A

1 paper

NM_000540.3

p.F3932L

c.11796C>G

1 paper

NM_000540.3

p.F3932I

c.11794T>A

2 papers

NM_000540.3

p.F3932L

c.11794T>C

1 paper

NM_000540.3

p.D3931N

c.11791G>A

3 papers

NM_000540.3

p.G3946S

c.11836G>A

1 paper

NM_000540.3

p.S3930N

c.11789G>A

1 paper

NM_000540.3

p.G3946D

c.11837G>A