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.Y246C

c.737A>G

Surrounding Variants

2 papers

NM_000540.3

p.Y246*

c.738T>A

2 papers

NM_000540.3

p.Y246*

c.738T>G

1 paper

NM_000540.3

p.E247K

c.739G>A

2 papers

NM_000540.3

p.G249delFs

c.746delG

79 papers

NM_000540.3

p.G248R

c.742G>A

69 papers

NM_000540.3

p.G248R

c.742G>C

2 papers

NM_000540.3

p.G248W

c.742G>T

1 paper

NM_000540.3

p.G248E

c.743G>A

11 papers

NM_000540.3

p.G249R

c.745G>A

11 papers

NM_000540.3

p.G249R

c.745G>C

1 paper

NM_000540.3

p.G249fs

c.745_746fs

1 paper

NM_000540.3

p.G249E

c.746G>A