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.I4817V

c.14449A>G

Surrounding Variants

2 papers

NM_000540.3

p.I4817F

c.14449A>T

4 papers

NM_000540.3

p.D4816G

c.14447A>G

1 paper

NM_000540.3

p.D4816N

c.14446G>A

1 paper

NM_000540.3

p.D4816H

c.14446G>C

4 papers

NM_000540.3

p.L4814F

c.14440C>T

7 papers

NM_000540.3

p.G4820R

c.14458G>A

7 papers

NM_000540.3

p.G4820R

c.14458G>C

3 papers

NM_000540.3

p.G4820W

c.14458G>T

1 paper

NM_000540.3

p.H4813R

c.14438A>G

7 papers

NM_000540.3

p.H4813Y

c.14437C>T

1 paper

NM_000540.3

p.A4812A

c.14436C>T

1 paper

NM_000540.3

p.K4822del1

c.14464_14465delAAG