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

3 papers

NM_000540.3

p.R2140Q

c.6419G>A

Surrounding Variants

2 papers

NM_000540.3

p.R2140W

c.6418C>T

1 paper

NM_000540.3

p.P2139Q

c.6416C>A

2 papers

NM_000540.3

p.A2141V

c.6422C>T

1 paper

NM_000540.3

p.T2143N

c.6428C>A

3 papers

NM_000540.3

p.R2136H

c.6407G>A

2 papers

NM_000540.3

p.R2136S

c.6406C>A

1 paper

NM_000540.3

p.S2145L

c.6434C>T

1 paper

NM_000540.3

p.S2148S

c.6444C>T

3 papers

NM_000540.3

p.G2132S

c.6394G>A

1 paper

NM_000540.3

p.V2149M

c.6445G>A

4 papers

NM_000540.3

p.G2130R

c.6388G>A

4 papers

NM_000540.3

p.G2130R

c.6388G>C