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

3 papers

NM_000540.3

p.H104R

c.311A>G

Surrounding Variants

1 paper

NM_000540.3

p.A105D

c.314C>A

1 paper

NM_000540.3

p.G103D

c.308G>A

1 paper

NM_000540.3

p.Y102H

c.304T>C

1 paper

NM_000540.3

p.L108I

c.322C>A

1 paper

NM_000540.3

p.L100V

c.298C>G

42 papers

NM_000540.3

p.R109W

c.325C>T

1 paper

NM_000540.3

p.T99M

c.296C>T

1 paper

NM_000540.3

p.R109Q

c.326G>A

1 paper

NM_000540.3

p.H110_A111insFs

c.328_331dup4

1 paper

NM_000540.3

p.T99_L101delFs

c.296_302del7

2 papers

NM_000540.3

p.H110Y

c.328C>T

1 paper

NM_000540.3

p.R98_L101del0

c.293_301del9