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_000540.3

p.G341A

c.1022G>C

Surrounding Variants

123 papers

NM_000540.3

p.G341R

c.1021G>A

100 papers

NM_000540.3

p.G341R

c.1021G>C

6 papers

NM_000540.3

p.E342K

c.1024G>A

1 paper

NM_000540.3

p.E342D

c.1026G>T

1 paper

NM_000540.3

p.S343*

c.1028C>A

1 paper

NM_000540.3

p.S343*

c.1028C>G

1 paper

NM_000540.3

p.L344_W355del12

c.1030_1064del36

1 paper

NM_000540.3

p.E337D

c.1011G>C

1 paper

NM_000540.3

p.E337D

c.1011G>T

1 paper

NM_000540.3

p.C345Y

c.1034G>A

1 paper

NM_000540.3

p.P336P

c.1008T>G

1 paper

NM_000540.3

p.P336R

c.1007C>G