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.L2368L

c.7102C>T

Surrounding Variants

17 papers

NM_000540.3

p.A2367T

c.7099G>A

6 papers

NM_000540.3

p.P2366P

c.7098C>T

1 paper

NM_000540.3

p.R2369Q

c.7106G>A

4 papers

NM_000540.3

p.P2366R

c.7097C>G

2 papers

NM_000540.3

p.G2370A

c.7109G>C

7 papers

NM_000540.3

p.G2365R

c.7093G>A

7 papers

NM_000540.3

p.E2371K

c.7111G>A

6 papers

NM_000540.3

p.G2365R

c.7093G>C

4 papers

NM_000540.3

p.E2371G

c.7112A>G

5 papers

NM_000540.3

p.F2364V

c.7090T>G

2 papers

NM_000540.3

p.C2363W

c.7089C>G

4 papers

NM_000540.3

p.C2363C

c.7089C>T