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.R401L

c.1202G>T

Surrounding Variants

17 papers

NM_000540.3

p.R401H

c.1202G>A

3 papers

NM_000540.3

p.R401S

c.1201C>A

1 paper

NM_000540.3

p.R401G

c.1201C>G

45 papers

NM_000540.3

p.R401C

c.1201C>T

1 paper

NM_000540.3

p.M402L

c.1204A>C

1 paper

NM_000540.3

p.M402L

c.1204A>T

9 papers

NM_000540.3

p.M402T

c.1205T>C

3 papers

NM_000540.3

p.A400T

c.1198G>A

56 papers

NM_000540.3

p.I403M

c.1209C>G

1 paper

NM_000540.3

p.H404Y

c.1210C>T

1 paper

NM_000540.3

p.Q398E

c.1192C>G

1 paper

NM_000540.3

p.S397P

c.1189T>C