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.G4835_Q4837delFs

c.14504_14511del8

Surrounding Variants

1 paper

NM_000540.3

p.N4834N

c.14502T>C

1 paper

NM_000540.3

p.G4835fs

c.14503_14504fs

1 paper

NM_000540.3

p.N4834Y

c.14500A>T

1 paper

NM_000540.3

p.G4835E

c.14504G>A

2 papers

NM_000540.3

p.G4835G

c.14505G>A

1 paper

NM_000540.3

p.G4835G

c.14505G>C

1 paper

NM_000540.3

p.G4835G

c.14505G>T

1 paper

NM_000540.3

p.H4833D

c.14497C>G

18 papers

NM_000540.3

p.H4833Y

c.14497C>T

2 papers

NM_000540.3

p.T4832N

c.14495C>A

4 papers

NM_000540.3

p.Q4837E

c.14509C>G

6 papers

NM_000540.3

p.Q4837delFs

c.14510delA