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.C606Y

c.1817G>A

Surrounding Variants

1 paper

NM_000540.3

p.V607M

c.1819G>A

1 paper

NM_000540.3

p.C608delFs

c.1823_1824delGT

1 paper

NM_000540.3

p.C608S

c.1822T>A

1 paper

NM_000540.3

p.C608S

c.1823G>C

1 paper

NM_000540.3

p.C608*

c.1824T>A

1 paper

NM_000540.3

p.S604P

c.1810T>C

1 paper

NM_000540.3

p.C603R

c.1807T>C

1 paper

NM_000540.3

p.G610S

c.1828G>A

2 papers

NM_000540.3

p.L602L

c.1804C>T

1 paper

NM_000540.3

p.V611V

c.1833G>A

1 paper

NM_000540.3

p.D600_S604delins

c.1799_1810delinsACCAAACTGATG

5 papers

NM_000540.3

p.A612T

c.1834G>A