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.S615P

c.1843T>C

Surrounding Variants

1 paper

NM_000540.3

p.S615C

c.1844C>G

6 papers

NM_000540.3

p.R614H

c.1841G>A

46 papers

NM_000540.3

p.R614L

c.1841G>T

2 papers

NM_000540.3

p.R614S

c.1840C>A

2 papers

NM_000540.3

p.R614G

c.1840C>G

222 papers

NM_000540.3

p.R614C

c.1840C>T

2 papers

NM_000540.3

p.A612D

c.1835C>A

5 papers

NM_000540.3

p.A612T

c.1834G>A

2 papers

NM_000540.3

p.A612P

c.1834G>C

1 paper

NM_000540.3

p.V611V

c.1833G>A

1 paper

NM_000540.3

p.G610S

c.1828G>A

1 paper

NM_000540.3

p.I620N

c.1859T>A