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

178 papers

NM_000540.3

p.Y522S

c.1565A>C

Surrounding Variants

13 papers

NM_000540.3

p.Y522C

c.1565A>G

2 papers

NM_000540.3

p.L520P

c.1559T>C

1 paper

NM_000540.3

p.L520F

c.1558C>T

1 paper

NM_000540.3

p.L525R

c.1574T>G

1 paper

NM_000540.3

p.N519D

c.1555A>G

2 papers

NM_000540.3

p.A526Splc

c.1576+1G>A

3 papers

NM_000540.3

p.V518A

c.1553T>C

1 paper

NM_000540.3

p.E516E

c.1548G>A

8 papers

NM_000540.3

p.E512K

c.1534G>A

2 papers

NM_000540.3

p.A511T

c.1531G>A

2 papers

NM_000540.3

p.E508Q

c.1522G>C

2 papers

NM_000540.3

p.A506T

c.1516G>A