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.P2172S

c.6514C>T

Surrounding Variants

1 paper

NM_000540.3

p.E2175del1

c.6523_6524delGAG

1 paper

NM_000540.3

p.V2168E

c.6503T>A

1 paper

NM_000540.3

p.V2168A

c.6503T>C

88 papers

NM_000540.3

p.V2168M

c.6502G>A

2 papers

NM_000540.3

p.V2168L

c.6502G>C

2 papers

NM_000540.3

p.V2168L

c.6502G>T

1 paper

NM_000540.3

p.I2167M

c.6501C>G

1 paper

NM_000540.3

p.I2167S

c.6500T>G

1 paper

NM_000540.3

p.L2166L

c.6498C>T

1 paper

NM_000540.3

p.I2179insFs

c.6535dupA

1 paper

NM_000540.3

p.I2179fs

c.6535_6536fs

1 paper

NM_000540.3

p.Q2180R

c.6539A>G