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.Q1597_L1599del0

c.4790_4795del6

Surrounding Variants

2 papers

NM_000540.3

p.R1593W

c.4777C>T

2 papers

NM_000540.3

p.P1592L

c.4775C>T

1 paper

NM_000540.3

p.L1599V

c.4795C>G

1 paper

NM_000540.3

p.P1601T

c.4801C>A

3 papers

NM_000540.3

p.P1588L

c.4763C>T

1 paper

NM_000540.3

p.A1587P

c.4759G>C

1 paper

NM_000540.3

p.P1586L

c.4757C>T

1 paper

NM_000540.3

p.R1606S

c.4816C>A

1 paper

NM_000540.3

p.R1606G

c.4816C>G

3 papers

NM_000540.3

p.R1606C

c.4816C>T

2 papers

NM_000540.3

p.R1606H

c.4817G>A

1 paper

NM_000540.3

p.R1606P

c.4817G>C