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

8 papers

NM_000540.3

p.V2354M

c.7060G>A

Surrounding Variants

32 papers

NM_000540.3

p.R2355W

c.7063C>T

4 papers

NM_000540.3

p.V2354del1

c.7060_7062delGTG

3 papers

NM_000540.3

p.N2351H

c.7051A>C

3 papers

NM_000540.3

p.I2358L

c.7072A>C

40 papers

NM_000540.3

p.A2350T

c.7048G>A

1 paper

NM_000540.3

p.A2350P

c.7048G>C

1 paper

NM_000540.3

p.I2358N

c.7073T>A

2 papers

NM_000540.3

p.I2358T

c.7073T>C

2 papers

NM_000540.3

p.R2359W

c.7075C>T

6 papers

NM_000540.3

p.R2359Q

c.7076G>A

11 papers

NM_000540.3

p.E2348G

c.7043A>G

3 papers

NM_000540.3

p.E2348K

c.7042G>A