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

2 papers

NM_000540.3

p.T634R

c.1901C>G

Surrounding Variants

1 paper

NM_000540.3

p.T634A

c.1900A>G

1 paper

NM_000540.3

p.T634delFs

c.1901delC

1 paper

NM_000540.3

p.T634fs

c.1900_1901fs

1 paper

NM_000540.3

p.Q633K

c.1897C>A

1 paper

NM_000540.3

p.Q633*

c.1897C>T

1 paper

NM_000540.3

p.I637V

c.1909A>G

4 papers

NM_000540.3

p.R628H

c.1883G>A

1 paper

NM_000540.3

p.R628P

c.1883G>C

1 paper

NM_000540.3

p.V640G

c.1919T>G

1 paper

NM_000540.3

p.R628C

c.1882C>T

1 paper

NM_000540.3

p.T641T

c.1923C>G

1 paper

NM_000540.3

p.S642Splc

c.1925+1G>A