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.I3413F

c.10237A>T

Surrounding Variants

3 papers

NM_000540.3

p.R3414C

c.10240C>T

1 paper

NM_000540.3

p.P3410Q

c.10229C>A

1 paper

NM_000540.3

p.P3410R

c.10229C>G

2 papers

NM_000540.3

p.P3410L

c.10229C>T

1 paper

NM_000540.3

p.N3418D

c.10252A>G

6 papers

NM_000540.3

p.A3407T

c.10219G>A

9 papers

NM_000540.3

p.A3407S

c.10219G>T

4 papers

NM_000540.3

p.Y3406Y

c.10218C>T

1 paper

NM_000540.3

p.R3420Splc

c.10259+2T>A

2 papers

NM_000540.3

p.R3420Splc

c.10259+7G>A

1 paper

NM_000540.3

p.R3403Q

c.10208G>A

1 paper

NM_000540.3

p.R3420Splc

c.10259+7G>T