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

41 papers

NM_000540.3

p.R2241*

c.6721C>T

Surrounding Variants

1 paper

NM_000540.3

p.I2242insFs

c.6724dupA

1 paper

NM_000540.3

p.C2240R

c.6718T>C

1 paper

NM_000540.3

p.S2243S

c.6729C>T

1 paper

NM_000540.3

p.R2244W

c.6730C>T

1 paper

NM_000540.3

p.R2244Q

c.6731G>A

8 papers

NM_000540.3

p.C2237Y

c.6710G>A

1 paper

NM_000540.3

p.R2244R

c.6732G>A

1 paper

NM_000540.3

p.Q2245insFs

c.6734dupA

1 paper

NM_000540.3

p.L2236R

c.6707T>G

1 paper

NM_000540.3

p.Q2247E

c.6739C>G

1 paper

NM_000540.3

p.Q2247R

c.6740A>G

2 papers

NM_000540.3

p.R2234H

c.6701G>A