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

2 papers

NM_001042723.2

p.K4861N

c.14583G>C

NM_000540.3

p.K4866N

c.14598G>C

Surrounding Variants

2 papers

NM_000540.3

p.K4866N

c.14598G>T

NM_001042723.2

p.K4861N

c.14583G>T

3 papers

NM_000540.3

p.K4866Q

c.14596A>C

5 papers

NM_000540.3

p.K4866E

c.14596A>G

2 papers

NM_000540.3

p.S4867N

c.14600G>A

4 papers

NM_000540.3

p.Y4864S

c.14591A>C

8 papers

NM_000540.3

p.Y4864C

c.14591A>G

8 papers

NM_000540.3

p.Y4864H

c.14590T>C

1 paper

NM_000540.3

p.Y4864D

c.14590T>G

1 paper

NM_000540.3

p.N4865del1

c.14593_14594delAAC

1 paper

NM_000540.3

p.D4869E

c.14607T>A

1 paper

NM_000540.3

p.D4869E

c.14607T>G

1 paper

NM_000540.3

p.F4863_D4869del0

c.14588_14605del18