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

23 papers

NM_000540.3

p.I2453T

c.7358T>C

Surrounding Variants

2 papers

NM_000540.3

p.R2454S

c.7360C>A

10 papers

NM_000540.3

p.R2454G

c.7360C>G

42 papers

NM_000540.3

p.R2454C

c.7360C>T

64 papers

NM_000540.3

p.R2454H

c.7361G>A

4 papers

NM_000540.3

p.R2452Q

c.7355G>A

2 papers

NM_000540.3

p.R2452P

c.7355G>C

2 papers

NM_000540.3

p.R2452G

c.7354C>G

50 papers

NM_000540.3

p.R2452W

c.7354C>T

1 paper

NM_000540.3

p.R2454R

c.7362C>T

1 paper

NM_000540.3

p.L2457V

c.7369C>G

60 papers

NM_000540.3

p.R2458C

c.7372C>T

63 papers

NM_000540.3

p.R2458H

c.7373G>A