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

14 papers

NM_000540.3

p.E160G

c.479A>G

Surrounding Variants

2 papers

NM_000540.3

p.G159E

c.476G>A

2 papers

NM_000540.3

p.G159R

c.475G>A

2 papers

NM_000540.3

p.G159R

c.475G>C

3 papers

NM_000540.3

p.R163G

c.487C>G

196 papers

NM_000540.3

p.R163C

c.487C>T

2 papers

NM_000540.3

p.E158del1

c.472_473delGAA

1 paper

NM_000540.3

p.R163H

c.488G>A

21 papers

NM_000540.3

p.R163L

c.488G>T

2 papers

NM_000540.3

p.V164F

c.490G>T

6 papers

NM_000540.3

p.R156K

c.467G>A

1 paper

NM_000540.3

p.R156M

c.467G>T

3 papers

NM_000540.3

p.R156W

c.466A>T