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

7 papers

NM_000540.3

p.D2129N

c.6385G>A

Surrounding Variants

4 papers

NM_000540.3

p.D2129G

c.6386A>G

2 papers

NM_000540.3

p.Y2128Y

c.6384C>T

11 papers

NM_000540.3

p.D2129E

c.6387C>A

11 papers

NM_000540.3

p.D2129E

c.6387C>G

2 papers

NM_000540.3

p.D2129D

c.6387C>T

4 papers

NM_000540.3

p.G2130R

c.6388G>A

4 papers

NM_000540.3

p.G2130R

c.6388G>C

4 papers

NM_000540.3

p.R2126Q

c.6377G>A

2 papers

NM_000540.3

p.R2126W

c.6376C>T

3 papers

NM_000540.3

p.G2132S

c.6394G>A

1 paper

NM_000540.3

p.H2125Q

c.6375C>A

1 paper

NM_000540.3

p.H2125Q

c.6375C>G