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.F539L

c.1617C>A

Surrounding Variants

3 papers

NM_000540.3

p.F539L

c.1617C>G

3 papers

NM_000540.3

p.F539L

c.1615T>C

4 papers

NM_000540.3

p.F539V

c.1615T>G

1 paper

NM_000540.3

p.N542T

c.1625A>C

3 papers

NM_000540.3

p.A537T

c.1609G>A

1 paper

NM_000540.3

p.N535S

c.1604A>G

10 papers

NM_000540.3

p.D544Y

c.1630G>T

1 paper

NM_000540.3

p.S534N

c.1601G>A

1 paper

NM_000540.3

p.S534delFs

c.1602delC

1 paper

NM_000540.3

p.W545*

c.1634G>A

24 papers

NM_000540.3

p.R533H

c.1598G>A

1 paper

NM_000540.3

p.R533S

c.1597C>A