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.D16G

c.47A>G

Surrounding Variants

1 paper

NM_000540.3

p.D17del1

c.49_50delGAT

2 papers

NM_000540.3

p.D17N

c.49G>A

1 paper

NM_000540.3

p.D17insFs

c.50dupA

1 paper

NM_000540.3

p.T15_D16Splc

c.46-2A>C

1 paper

NM_000540.3

p.D17G

c.50A>G

1 paper

NM_000540.3

p.E18delFs

c.53delA

1 paper

NM_000540.3

p.V19L

c.55G>C

1 paper

NM_000540.3

p.V19E

c.56T>A

1 paper

NM_000540.3

p.V20_Q22del3

c.58_65del9

1 paper

NM_000540.3

p.T15_D16Splc

c.46-10G>A

1 paper

NM_000540.3

p.V20_L21insGCT

c.58_62ins9

1 paper

NM_000540.3

p.L21insFs

c.61dupC