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.V486_L487insFs

c.1456_1459dup4

Surrounding Variants

1 paper

NM_000540.3

p.M485insFs

c.1455dupG

23 papers

NM_000540.3

p.M485V

c.1453A>G

1 paper

NM_000540.3

p.L487L

c.1459C>T

3 papers

NM_000540.3

p.L487P

c.1460T>C

1 paper

NM_000540.3

p.S484P

c.1450T>C

1 paper

NM_000540.3

p.N488delFs

c.1463delA

3 papers

NM_000540.3

p.C489F

c.1466G>T

1 paper

NM_000540.3

p.C489C

c.1467C>T

2 papers

NM_000540.3

p.E480_G481Splc

c.1441-2A>G

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