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

28 papers

NM_000540.3

p.R1086H

c.3257G>A

Surrounding Variants

6 papers

NM_000540.3

p.R1086S

c.3256C>A

1 paper

NM_000540.3

p.R1086G

c.3256C>G

8 papers

NM_000540.3

p.R1086C

c.3256C>T

2 papers

NM_000540.3

p.G1085S

c.3253G>A

6 papers

NM_000540.3

p.Y1088C

c.3263A>G

1 paper

NM_000540.3

p.F1089_E1090insT

c.3265_3269ins3

1 paper

NM_000540.3

p.E1090E

c.3270G>A

10 papers

NM_000540.3

p.T1081T

c.3243A>G

2 papers

NM_000540.3

p.F1091L

c.3271T>C

7 papers

NM_000540.3

p.R1075Q

c.3224G>A

8 papers

NM_000540.3

p.R1075W

c.3223C>T

2 papers

NM_000540.3

p.G1097G

c.3291C>T