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.G332C

c.994G>T

Surrounding Variants

1 paper

NM_000540.3

p.G332D

c.995G>A

2 papers

NM_000540.3

p.G334S

c.1000G>A

1 paper

NM_000540.3

p.G334R

c.1000G>C

1 paper

NM_000540.3

p.G334D

c.1001G>A

2 papers

NM_000540.3

p.G334V

c.1001G>T

20 papers

NM_000540.3

p.R328W

c.982C>T

1 paper

NM_000540.3

p.P336S

c.1006C>T

1 paper

NM_000540.3

p.P336R

c.1007C>G

1 paper

NM_000540.3

p.P336L

c.1007C>T

1 paper

NM_000540.3

p.P336P

c.1008T>G

1 paper

NM_000540.3

p.E337D

c.1011G>C

1 paper

NM_000540.3

p.E337D

c.1011G>T