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.M2064R

c.6191T>G

Surrounding Variants

1 paper

NM_000540.3

p.S2065_V2070del0

c.6195_6209del15

1 paper

NM_000540.3

p.R2062_L2063ins5

c.6186_6187ins15

1 paper

NM_000540.3

p.L2066P

c.6197T>C

1 paper

NM_000540.3

p.R2062C

c.6184C>T

1 paper

NM_000540.3

p.S2061fs

c.6181_6182fs

1 paper

NM_000540.3

p.G2060_S2061insFs

c.6180_6181ins7

1 paper

NM_000540.3

p.G2060V

c.6179G>T

1 paper

NM_000540.3

p.G2060R

c.6178G>C

42 papers

NM_000540.3

p.G2060C

c.6178G>T

1 paper

NM_000540.3

p.L2059L

c.6177G>A

1 paper

NM_000540.3

p.K2069K

c.6207A>G

2 papers

NM_000540.3

p.V2070E

c.6209T>A