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.A2421T

c.7261G>A

Surrounding Variants

5 papers

NM_000540.3

p.A2421P

c.7261G>C

2 papers

NM_000540.3

p.A2421S

c.7261G>T

5 papers

NM_000540.3

p.H2420H

c.7260C>T

1 paper

NM_000540.3

p.I2422V

c.7264A>G

1 paper

NM_000540.3

p.I2422T

c.7265T>C

1 paper

NM_000540.3

p.M2423V

c.7267A>G

21 papers

NM_000540.3

p.M2423K

c.7268T>A

4 papers

NM_000540.3

p.Y2426C

c.7277A>G

4 papers

NM_000540.3

p.R2415Q

c.7244G>A

2 papers

NM_000540.3

p.R2415W

c.7243C>T

1 paper

NM_000540.3

p.A2427A

c.7281C>T

24 papers

NM_000540.3

p.A2428T

c.7282G>A