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.A38S

c.112G>T

Surrounding Variants

1 paper

NM_000540.3

p.A38T

c.112G>A

1 paper

NM_000540.3

p.A38G

c.113C>G

1 paper

NM_000540.3

p.A37T

c.109G>A

1 paper

NM_000540.3

p.E39K

c.115G>A

1 paper

NM_000540.3

p.E39_G40insC

c.115_119ins3

1 paper

NM_000540.3

p.G40C

c.118G>T

1 paper

NM_000540.3

p.G40D

c.119G>A

2 papers

NM_000540.3

p.G40A

c.119G>C

3 papers

NM_000540.3

p.G40V

c.119G>T

54 papers

NM_000540.3

p.C35R

c.103T>C

1 paper

NM_000540.3

p.F41L

c.121T>C

1 paper

NM_000540.3

p.L34L

c.102C>T