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.R2092L

c.6275G>T

Surrounding Variants

2 papers

NM_000540.3

p.R2092Splc

c.6274+1G>A

1 paper

NM_000540.3

p.S2089_P2091del3

c.6265_6272del9

1 paper

NM_000540.3

p.R2084Q

c.6251G>A

1 paper

NM_000540.3

p.R2084W

c.6250C>T

1 paper

NM_000540.3

p.E2082K

c.6244G>A

1 paper

NM_000540.3

p.K2076del1

c.6226_6228delAAG

1 paper

NM_000540.3

p.L2072V

c.6214C>G

2 papers

NM_000540.3

p.R2071Q

c.6212G>A

2 papers

NM_000540.3

p.V2070E

c.6209T>A

1 paper

NM_000540.3

p.K2069K

c.6207A>G

1 paper

NM_000540.3

p.L2066P

c.6197T>C

1 paper

NM_000540.3

p.S2065_V2070del0

c.6195_6209del15