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.P2311delFs

c.6933delC

Surrounding Variants

2 papers

NM_000540.3

p.M2312fs

c.6934_6935fs

1 paper

NM_000540.3

p.C2305S

c.6914G>C

1 paper

NM_000540.3

p.C2305S

c.6913T>A

2 papers

NM_000540.3

p.S2300P

c.6898T>C

16 papers

NM_000540.3

p.I2321V

c.6961A>G

2 papers

NM_000540.3

p.I2321T

c.6962T>C

1 paper

NM_000540.3

p.V2298I

c.6892G>A

1 paper

NM_000540.3

p.C2326S

c.6976T>A

1 paper

NM_000540.3

p.C2326S

c.6977G>C

1 paper

NM_000540.3

p.G2328R

c.6982G>A

1 paper

NM_000540.3

p.G2328R

c.6982G>C

1 paper

NM_000540.3

p.R2330C

c.6988C>T