Varaico: Literature-Extracted Genetic Variants

Gene:OSGEPL1
Variant:p.K230Q

OSGEPL1

32 papers

Pfam Domains

TsaDaa 59–365UCSCtRNA N6-adenosine threonylcarbamoyltransferase

Gene Aliases

HGNC Name

O-sialoglycoprotein endopeptidase like 1

HGNC Alias Symbol

Qri7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022353.3
p.K230Q
c.688A>C
Surrounding Variants
1 paper
NM_022353.3
p.K240Q
c.718A>C
1 paper
NM_022353.3
p.M265T
c.794T>C
1 paper
NM_022353.3
p.K299E
c.895A>G
1 paper
NM_022353.3
p.K299Q
c.895A>C
1 paper
NM_022353.3
p.K299R
c.896A>G
1 paper
NM_022353.3
p.K203R
c.608A>G
1 paper
NM_022353.3
p.K203E
c.607A>G
1 paper
NM_022353.3
p.K203Q
c.607A>C
1 paper
NM_022353.3
p.K140Q
c.418A>C
1 paper
NM_022353.3
p.L138del1
c.412_413delTAA
1 paper
NM_022353.3
p.V135A
c.404T>C
1 paper
NM_022353.3
p.S129P
c.385T>C
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