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.E262*

c.784G>T

Surrounding Variants

1 paper

NM_000540.3

p.E262Q

c.784G>C

1 paper

NM_000540.3

p.P263Q

c.788C>A

1 paper

NM_000540.3

p.S257F

c.770C>T

1 paper

NM_000540.3

p.I266I

c.798C>T

1 paper

NM_000540.3

p.S267_W268insGCA

c.799_803ins9

3 papers

NM_000540.3

p.R256H

c.767G>A

1 paper

NM_000540.3

p.R256S

c.766C>A

1 paper

NM_000540.3

p.T253I

c.758C>T

1 paper

NM_000540.3

p.C252_T253ins8

c.754_758ins24

1 paper

NM_000540.3

p.V251M

c.751G>A

1 paper

NM_000540.3

p.G249G

c.747A>G

1 paper

NM_000540.3

p.G249E

c.746G>A