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.Q4934L

c.14801A>T

Surrounding Variants

1 paper

NM_000540.3

p.Q4934R

c.14801A>G

4 papers

NM_000540.3

p.G4935S

c.14803G>A

3 papers

NM_000540.3

p.G4935D

c.14804G>A

1 paper

NM_000540.3

p.I4933T

c.14798T>C

1 paper

NM_000540.3

p.I4933S

c.14798T>G

1 paper

NM_000540.3

p.I4932I

c.14796C>T

1 paper

NM_000540.3

p.I4932V

c.14794A>G

1 paper

NM_000540.3

p.L4929fs

c.14785_14786fs

2 papers

NM_000540.3

p.I4928V

c.14782A>G

1 paper

NM_000540.3

p.V4927I

c.14779G>A

1 paper

NM_000540.3

p.V4927ins3

c.14779_14780ins9

5 papers

NM_000540.3

p.V4927F

c.14779G>T