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

4 papers

NM_000540.3

p.F2340L

c.7018T>C

Surrounding Variants

4 papers

NM_000540.3

p.F2340L

c.7020C>A

4 papers

NM_000540.3

p.F2340L

c.7020C>G

3 papers

NM_000540.3

p.V2341I

c.7021G>A

39 papers

NM_000540.3

p.N2342S

c.7025A>G

1 paper

NM_000540.3

p.N2342I

c.7025A>T

1 paper

NM_000540.3

p.N2342N

c.7026C>T

9 papers

NM_000540.3

p.G2343S

c.7027G>A

39 papers

NM_000540.3

p.R2336H

c.7007G>A

2 papers

NM_000540.3

p.R2336L

c.7007G>T

1 paper

NM_000540.3

p.R2336G

c.7006C>G

7 papers

NM_000540.3

p.R2336C

c.7006C>T

1 paper

NM_000540.3

p.G2343Splc

c.7027+6G>C