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.M1636I

c.4908G>C

Surrounding Variants

1 paper

NM_000540.3

p.M1636I

c.4908G>A

1 paper

NM_000540.3

p.M1636I

c.4908G>T

1 paper

NM_000540.3

p.M1636V

c.4906A>G

1 paper

NM_000540.3

p.A1637V

c.4910C>T

1 paper

NM_000540.3

p.L1633L

c.4899G>A

1 paper

NM_000540.3

p.I1640I

c.4920C>A

6 papers

NM_000540.3

p.P1632S

c.4894C>T

3 papers

NM_000540.3

p.E1642K

c.4924G>A

1 paper

NM_000540.3

p.C1629*

c.4887C>A

1 paper

NM_000540.3

p.N1644N

c.4932C>T

8 papers

NM_000540.3

p.R1645Q

c.4934G>A

2 papers

NM_000540.3

p.R1645L

c.4934G>T