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

3 papers

NM_000540.3

p.C2233R

c.6697T>C

Surrounding Variants

1 paper

NM_000540.3

p.C2233S

c.6697T>A

1 paper

NM_000540.3

p.C2233S

c.6698G>C

1 paper

NM_000540.3

p.C2232S

c.6695G>C

4 papers

NM_000540.3

p.R2234C

c.6700C>T

1 paper

NM_000540.3

p.C2232S

c.6694T>A

2 papers

NM_000540.3

p.R2234H

c.6701G>A

1 paper

NM_000540.3

p.T2230S

c.6688A>T

1 paper

NM_000540.3

p.L2236R

c.6707T>G

8 papers

NM_000540.3

p.C2237Y

c.6710G>A

1 paper

NM_000540.3

p.K2227Q

c.6679A>C

1 paper

NM_000540.3

p.C2240R

c.6718T>C

41 papers

NM_000540.3

p.R2241*

c.6721C>T