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

5 papers

NM_000540.3

p.F4860V

c.14578T>G

Surrounding Variants

2 papers

NM_000540.3

p.F4860S

c.14579T>C

2 papers

NM_000540.3

p.R4861G

c.14581C>G

34 papers

NM_000540.3

p.R4861C

c.14581C>T

69 papers

NM_000540.3

p.R4861H

c.14582G>A

NM_001042723.2

p.R4856H

c.14567G>A

2 papers

NM_000540.3

p.R4861P

c.14582G>C

1 paper

NM_000540.3

p.R4861L

c.14582G>T

1 paper

NM_000540.3

p.N4858S

c.14573A>G

10 papers

NM_000540.3

p.F4860del1

c.14578_14579delTTC

4 papers

NM_000540.3

p.N4858D

c.14572A>G

1 paper

NM_000540.3

p.K4862E

c.14584A>G

2 papers

NM_000540.3

p.K4862T

c.14585A>C

2 papers

NM_000540.3

p.F4857L

c.14571C>A