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

1–12 of 3626 variants

222 papers

NM_000540.3

p.R614C

c.1840C>T

196 papers

NM_000540.3

p.R163C

c.487C>T

178 papers

NM_000540.3

p.Y522S

c.1565A>C

123 papers

NM_000540.3

p.G341R

c.1021G>A

121 papers

NM_000540.3

p.G2434R

c.7300G>A

120 papers

NM_000540.3

p.I4898T

c.14693T>C

119 papers

NM_000540.3

p.T2206M

c.6617C>T

110 papers

NM_000540.3

p.G2434R

c.7300G>C

100 papers

NM_000540.3

p.G341R

c.1021G>C

88 papers

NM_000540.3

p.V2168M

c.6502G>A

79 papers

NM_000540.3

p.G248R

c.742G>A

77 papers

NM_000540.3

p.R2435H

c.7304G>A