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

4 papers

NM_000540.3

p.R114H

c.341G>A

Surrounding Variants

1 paper

NM_000540.3

p.R114P

c.341G>C

1 paper

NM_000540.3

p.S113N

c.338G>A

3 papers

NM_000540.3

p.M115I

c.345G>A

3 papers

NM_000540.3

p.M115I

c.345G>C

3 papers

NM_000540.3

p.M115I

c.345G>T

1 paper

NM_000540.3

p.H112Q

c.336C>A

1 paper

NM_000540.3

p.H112Q

c.336C>G

2 papers

NM_000540.3

p.H110Y

c.328C>T

1 paper

NM_000540.3

p.R109Q

c.326G>A

1 paper

NM_000540.3

p.H110_A111insFs

c.328_331dup4

42 papers

NM_000540.3

p.R109W

c.325C>T

1 paper

NM_000540.3

p.L108I

c.322C>A