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.G4899A

c.14696G>C

Surrounding Variants

21 papers

NM_000540.3

p.G4899E

c.14696G>A

19 papers

NM_000540.3

p.G4899R

c.14695G>A

19 papers

NM_000540.3

p.G4899R

c.14695G>C

1 paper

NM_000540.3

p.D4900N

c.14698G>A

120 papers

NM_000540.3

p.I4898T

c.14693T>C

NM_001042723.2

p.I4893T

c.14678T>C

2 papers

NM_000540.3

p.I4898S

c.14693T>G

1 paper

NM_000540.3

p.D4900D

c.14700C>T

3 papers

NM_000540.3

p.E4901K

c.14701G>A

6 papers

NM_000540.3

p.G4897D

c.14690G>A

2 papers

NM_000540.3

p.G4897A

c.14690G>C

6 papers

NM_000540.3

p.G4897V

c.14690G>T

1 paper

NM_000540.3

p.G4897_D4900del4

c.14689_14699del12