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

5 papers

NM_000540.3

p.M4880T

c.14639T>C

Surrounding Variants

2 papers

NM_000540.3

p.M4881I

c.14643G>A

2 papers

NM_000540.3

p.M4881I

c.14643G>C

2 papers

NM_000540.3

p.M4881I

c.14643G>T

5 papers

NM_000540.3

p.D4878A

c.14633A>C

12 papers

NM_000540.3

p.T4882M

c.14645C>T

12 papers

NM_000540.3

p.K4876R

c.14627A>G

1 paper

NM_000540.3

p.M4875T

c.14624T>C

3 papers

NM_000540.3

p.M4875V

c.14623A>G

1 paper

NM_000540.3

p.E4872Q

c.14614G>C

1 paper

NM_000540.3

p.D4869E

c.14607T>A

1 paper

NM_000540.3

p.D4869E

c.14607T>G

2 papers

NM_000540.3

p.S4867N

c.14600G>A