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.R2118P

c.6353G>C

Surrounding Variants

2 papers

NM_000540.3

p.R2118Q

c.6353G>A

3 papers

NM_000540.3

p.R2118W

c.6352C>T

2 papers

NM_000540.3

p.V2117A

c.6350T>C

11 papers

NM_000540.3

p.V2117L

c.6349G>C

11 papers

NM_000540.3

p.V2117L

c.6349G>T

5 papers

NM_000540.3

p.M2120T

c.6359T>C

1 paper

NM_000540.3

p.E2115K

c.6343G>A

1 paper

NM_000540.3

p.P2114L

c.6341C>T

1 paper

NM_000540.3

p.L2123L

c.6369C>T

1 paper

NM_000540.3

p.H2125Q

c.6375C>A

1 paper

NM_000540.3

p.H2125Q

c.6375C>G

2 papers

NM_000540.3

p.R2126W

c.6376C>T