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.T497N

c.1490C>A

Surrounding Variants

1 paper

NM_000540.3

p.T497I

c.1490C>T

1 paper

NM_000540.3

p.T498A

c.1492A>G

1 paper

NM_000540.3

p.H501Y

c.1501C>T

1 paper

NM_000540.3

p.F502_F505del4

c.1504_1514del12

1 paper

NM_000540.3

p.R492R

c.1476C>A

4 papers

NM_000540.3

p.R492H

c.1475G>A

1 paper

NM_000540.3

p.F502Y

c.1505T>A

1 paper

NM_000540.3

p.R492_L493ins4

c.1474_1478ins12

2 papers

NM_000540.3

p.R492G

c.1474C>G

2 papers

NM_000540.3

p.R492C

c.1474C>T

1 paper

NM_000540.3

p.A503V

c.1508C>T

1 paper

NM_000540.3

p.C489C

c.1467C>T