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.T51N

c.152C>A

Surrounding Variants

1 paper

NM_000540.3

p.S52G

c.154A>G

2 papers

NM_000540.3

p.S52N

c.155G>A

4 papers

NM_000540.3

p.N53I

c.158A>T

1 paper

NM_000540.3

p.E49V

c.146A>T

1 paper

NM_000540.3

p.A54T

c.160G>A

1 paper

NM_000540.3

p.L48Q

c.143T>A

2 papers

NM_000540.3

p.Q55R

c.164A>G

2 papers

NM_000540.3

p.Q55Q

c.165G>A

1 paper

NM_000540.3

p.C46R

c.136T>C

1 paper

NM_000540.3

p.L45L

c.135G>C

11 papers

NM_000540.3

p.R44H

c.131G>A

2 papers

NM_000540.3

p.R44P

c.131G>C