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.V4854M

c.14560G>A

Surrounding Variants

1 paper

NM_000540.3

p.V4854A

c.14561T>C

2 papers

NM_000540.3

p.T4853N

c.14558C>A

10 papers

NM_000540.3

p.T4853I

c.14558C>T

1 paper

NM_000540.3

p.Y4852S

c.14555A>C

1 paper

NM_000540.3

p.Y4852C

c.14555A>G

2 papers

NM_000540.3

p.A4856T

c.14566G>A

1 paper

NM_000540.3

p.Y4852H

c.14554T>C

4 papers

NM_000540.3

p.A4856G

c.14567C>G

3 papers

NM_000540.3

p.A4856V

c.14567C>T

1 paper

NM_000540.3

p.A4856A

c.14568C>T

2 papers

NM_000540.3

p.L4851P

c.14552T>C

1 paper

NM_000540.3

p.L4851R

c.14552T>G