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

8 papers

NM_000540.3

p.S2345R

c.7033A>C

Surrounding Variants

2 papers

NM_000540.3

p.S2345N

c.7034G>A

7 papers

NM_000540.3

p.E2344D

c.7032G>C

6 papers

NM_000540.3

p.S2345T

c.7034G>C

7 papers

NM_000540.3

p.E2344D

c.7032G>T

8 papers

NM_000540.3

p.S2345R

c.7035C>A

8 papers

NM_000540.3

p.S2345R

c.7035C>G

14 papers

NM_000540.3

p.V2346M

c.7036G>A

1 paper

NM_000540.3

p.E2344fs

c.7030_7031fs

16 papers

NM_000540.3

p.E2347del1

c.7039_7040delGAG

3 papers

NM_000540.3

p.E2348K

c.7042G>A

11 papers

NM_000540.3

p.E2348G

c.7043A>G

40 papers

NM_000540.3

p.A2350T

c.7048G>A