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

6 papers

NM_000540.3

p.R1127H

c.3380G>A

Surrounding Variants

1 paper

NM_000540.3

p.R1127S

c.3379C>A

1 paper

NM_000540.3

p.R1127C

c.3379C>T

5 papers

NM_000540.3

p.R1127_G1128Splc

c.3381+1G>A

1 paper

NM_000540.3

p.R1127_G1128Splc

c.3381+5G>A

1 paper

NM_000540.3

p.N1124S

c.3371A>G

1 paper

NM_000540.3

p.V1122G

c.3365T>G

9 papers

NM_000540.3

p.Y1121C

c.3362A>G

1 paper

NM_000540.3

p.L1119L

c.3357G>A

1 paper

NM_000540.3

p.E1118K

c.3352G>A

1 paper

NM_000540.3

p.G1115E

c.3344G>A

1 paper

NM_000540.3

p.E1113G

c.3338A>G

1 paper

NM_000540.3

p.D1111V

c.3332A>T