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

2 papers

NM_000540.3

p.R3366C

c.10096C>T

Surrounding Variants

40 papers

NM_000540.3

p.R3366H

c.10097G>A

1 paper

NM_000540.3

p.R3366L

c.10097G>T

7 papers

NM_000540.3

p.K3367R

c.10100A>G

1 paper

NM_000540.3

p.R3368S

c.10104G>C

1 paper

NM_000540.3

p.R3368S

c.10104G>T

1 paper

NM_000540.3

p.G3363R

c.10087G>A

1 paper

NM_000540.3

p.G3363R

c.10087G>C

1 paper

NM_000540.3

p.A3369S

c.10105G>T

1 paper

NM_000540.3

p.I3362I

c.10086C>T

1 paper

NM_000540.3

p.G3370R

c.10108G>A

1 paper

NM_000540.3

p.G3370R

c.10108G>C

1 paper

NM_000540.3

p.K3371T

c.10112A>C