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.P2496R

c.7487C>G

Surrounding Variants

4 papers

NM_000540.3

p.P2496L

c.7487C>T

1 paper

NM_000540.3

p.P2496S

c.7486C>T

1 paper

NM_000540.3

p.H2498Y

c.7492C>T

4 papers

NM_000540.3

p.A2500A

c.7500G>A

1 paper

NM_000540.3

p.A2500A

c.7500G>T

1 paper

NM_000540.3

p.S2491insFs

c.7472_7473insC

1 paper

NM_000540.3

p.S2491insFs

c.7471dupT

1 paper

NM_000540.3

p.M2490V

c.7468A>G

1 paper

NM_000540.3

p.V2503M

c.7507G>A

1 paper

NM_000540.3

p.P2488fs

c.7462_7463fs

3 papers

NM_000540.3

p.P2488_A2492delFs

c.7463_7475del13

5 papers

NM_000540.3

p.R2508S

c.7522C>A