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

76 papers

NM_000540.3

p.V4849I

c.14545G>A

Surrounding Variants

2 papers

NM_000540.3

p.V4849F

c.14545G>T

2 papers

NM_000540.3

p.Y4850H

c.14548T>C

2 papers

NM_000540.3

p.Y4850C

c.14549A>G

6 papers

NM_000540.3

p.V4847L

c.14539G>C

6 papers

NM_000540.3

p.V4847L

c.14539G>T

2 papers

NM_000540.3

p.L4851P

c.14552T>C

1 paper

NM_000540.3

p.L4851R

c.14552T>G

13 papers

NM_000540.3

p.A4846V

c.14537C>T

2 papers

NM_000540.3

p.A4846P

c.14536G>C

1 paper

NM_000540.3

p.Y4852H

c.14554T>C

1 paper

NM_000540.3

p.Y4852S

c.14555A>C

1 paper

NM_000540.3

p.Y4852C

c.14555A>G