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

1 paper

NM_000540.3

p.G558Splc

c.1673-3C>T

Surrounding Variants

3 papers

NM_000540.3

p.I559insFs

c.1675dupA

1 paper

NM_000540.3

p.I559fs

c.1675_1676fs

1 paper

NM_000540.3

p.Y564H

c.1690T>C

1 paper

NM_000540.3

p.Y564C

c.1691A>G

1 paper

NM_000540.3

p.L567F

c.1699C>T

1 paper

NM_000540.3

p.P571P

c.1713A>G

2 papers

NM_000540.3

p.E572A

c.1715A>C

1 paper

NM_000540.3

p.L574V

c.1720C>G

1 paper

NM_000540.3

p.G558Splc

c.1672+29G>C

1 paper

NM_000540.3

p.Q578P

c.1733A>C

3 papers

NM_000540.3

p.H581insFs

c.1742_1743ins4

1 paper

NM_000540.3

p.G558Splc

c.1672+16G>T