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.H382Y

c.1144C>T

Surrounding Variants

7 papers

NM_000540.3

p.H382N

c.1144C>A

1 paper

NM_000540.3

p.H382D

c.1144C>G

2 papers

NM_000540.3

p.D385D

c.1155C>T

1 paper

NM_000540.3

p.A386T

c.1156G>A

2 papers

NM_000540.3

p.S388L

c.1163C>T

1 paper

NM_000540.3

p.R391C

c.1171C>T

1 paper

NM_000540.3

p.R391H

c.1172G>A

2 papers

NM_000540.3

p.R391P

c.1172G>C

1 paper

NM_000540.3

p.E395K

c.1183G>A

2 papers

NM_000540.3

p.E396K

c.1186G>A

4 papers

NM_000540.3

p.E396*

c.1186G>T

2 papers

NM_000540.3

p.E396A

c.1187A>C