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.P2528P

c.7584C>T

Surrounding Variants

1 paper

NM_000540.3

p.P2528L

c.7583C>T

5 papers

NM_000540.3

p.D2529N

c.7585G>A

1 paper

NM_000540.3

p.G2525E

c.7574G>A

1 paper

NM_000540.3

p.A2533V

c.7598C>T

1 paper

NM_000540.3

p.V2524M

c.7570G>A

1 paper

NM_000540.3

p.A2534T

c.7600G>A

1 paper

NM_000540.3

p.V2521M

c.7561G>A

1 paper

NM_000540.3

p.T2538M

c.7613C>T

1 paper

NM_000540.3

p.T2538_A2539Splc

c.7614+1G>A

2 papers

NM_000540.3

p.T2538_A2539Splc

c.7614+10C>G

1 paper

NM_000540.3

p.E2513Q

c.7537G>C

2 papers

NM_000540.3

p.Y2510H

c.7528T>C