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.M1578I

c.4734G>T

Surrounding Variants

1 paper

NM_000540.3

p.M1578I

c.4734G>A

1 paper

NM_000540.3

p.M1578I

c.4734G>C

5 papers

NM_000540.3

p.A1577T

c.4729G>A

6 papers

NM_000540.3

p.R1583C

c.4747C>T

2 papers

NM_000540.3

p.R1583H

c.4748G>A

2 papers

NM_000540.3

p.P1573P

c.4719G>A

4 papers

NM_000540.3

p.P1573L

c.4718C>T

1 paper

NM_000540.3

p.P1573T

c.4717C>A

4 papers

NM_000540.3

p.M1572T

c.4715T>C

37 papers

NM_000540.3

p.I1571V

c.4711A>G

1 paper

NM_000540.3

p.P1586L

c.4757C>T

1 paper

NM_000540.3

p.A1587P

c.4759G>C