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.K29E

c.85A>G

Surrounding Variants

1 paper

NM_000540.3

p.E30_Q31insGCA

c.88_92ins9

1 paper

NM_000540.3

p.E30G

c.89A>G

4 papers

NM_000540.3

p.E30V

c.89A>T

1 paper

NM_000540.3

p.V27V

c.81G>A

1 paper

NM_000540.3

p.Q31E

c.91C>G

2 papers

NM_000540.3

p.T26P

c.76A>C

2 papers

NM_000540.3

p.T26A

c.76A>G

4 papers

NM_000540.3

p.L32F

c.94C>T

1 paper

NM_000540.3

p.L32P

c.95T>C

4 papers

NM_000540.3

p.K33E

c.97A>G

1 paper

NM_000540.3

p.L34_C35insC

c.100_104ins3

1 paper

NM_000540.3

p.L34L

c.102C>T