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.A4811G

c.14432C>G

Surrounding Variants

1 paper

NM_000540.3

p.A4812A

c.14436C>T

2 papers

NM_000540.3

p.F4809L

c.14427C>A

1 paper

NM_000540.3

p.F4809L

c.14427C>G

7 papers

NM_000540.3

p.H4813Y

c.14437C>T

1 paper

NM_000540.3

p.F4810del1

c.14428_14429delTTT

1 paper

NM_000540.3

p.H4813R

c.14438A>G

1 paper

NM_000540.3

p.F4809L

c.14425T>C

7 papers

NM_000540.3

p.F4808L

c.14424C>A

7 papers

NM_000540.3

p.F4808L

c.14424C>G

4 papers

NM_000540.3

p.L4814F

c.14440C>T

5 papers

NM_000540.3

p.F4808Y

c.14423T>A

2 papers

NM_000540.3

p.F4808Fs

c.14423delinsAAFs