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

3 papers

NM_000540.3

p.F4924del1

c.14770_14771delTTC

Surrounding Variants

5 papers

NM_000540.3

p.T4920N

c.14759C>A

3 papers

NM_000540.3

p.T4920I

c.14759C>T

1 paper

NM_000540.3

p.F4923_F4924del0

c.14767_14772del6

6 papers

NM_000540.3

p.F4921L

c.14761T>C

1 paper

NM_000540.3

p.F4921delins

c.14761_14762delinsAC

9 papers

NM_000540.3

p.F4921S

c.14762T>C

6 papers

NM_000540.3

p.F4921L

c.14763C>A

7 papers

NM_000540.3

p.F4921L

c.14763C>G

2 papers

NM_000540.3

p.T4920_I4926ins2

c.14758_14778dup21

1 paper

NM_000540.3

p.F4924ins10

c.14771_14772ins30

8 papers

NM_000540.3

p.D4918N

c.14752G>A

3 papers

NM_000540.3

p.F4917L

c.14751C>A