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.R3395insFs

c.10183dupC

Surrounding Variants

2 papers

NM_000540.3

p.R3395W

c.10183C>T

1 paper

NM_000540.3

p.R3395fs

c.10183_10184fs

1 paper

NM_000540.3

p.D3396Y

c.10186G>T

2 papers

NM_000540.3

p.D3396D

c.10188C>T

1 paper

NM_000540.3

p.L3392L

c.10176G>A

1 paper

NM_000540.3

p.L3392V

c.10174C>G

1 paper

NM_000540.3

p.L3393_V3400delFs

c.10177_10198del22

2 papers

NM_000540.3

p.E3391K

c.10171G>A

1 paper

NM_000540.3

p.C3402S

c.10204T>A

9 papers

NM_000540.3

p.C3402G

c.10204T>G

1 paper

NM_000540.3

p.C3402S

c.10205G>C

1 paper

NM_000540.3

p.R3403W

c.10207C>T