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.R1618C

c.4852C>T

Surrounding Variants

4 papers

NM_000540.3

p.R1618H

c.4853G>A

1 paper

NM_000540.3

p.A1619S

c.4855G>T

1 paper

NM_000540.3

p.T1616M

c.4847C>T

1 paper

NM_000540.3

p.G1620S

c.4858G>A

1 paper

NM_000540.3

p.E1615G

c.4844A>G

1 paper

NM_000540.3

p.E1621K

c.4861G>A

1 paper

NM_000540.3

p.R1622W

c.4864C>T

2 papers

NM_000540.3

p.R1622Q

c.4865G>A

4 papers

NM_000540.3

p.Q1613*

c.4837C>T

2 papers

NM_000540.3

p.W1625C

c.4875G>C

2 papers

NM_000540.3

p.W1625C

c.4875G>T

1 paper

NM_000540.3

p.A1626A

c.4878C>T