Varaico: Literature-Extracted Genetic Variants

Gene:OSGEP
Variant:p.K78E

OSGEP

78 papers

Pfam Domains

TsaDaa 23–301UCSCtRNA N6-adenosine threonylcarbamoyltransferase

Gene Aliases

HGNC Name

O-sialoglycoprotein endopeptidase

HGNC Alias Symbols

PRSMG1; GCPL1; OSGEP1; KAE1; TCS3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017807.4
p.K78E
c.232A>G
Surrounding Variants
1 paper
NM_017807.4
p.K78*
c.232A>T
1 paper
NM_017807.4
p.G65E
c.194G>A
1 paper
NM_017807.4
p.E63delFs
c.188_189delCT
1 paper
NM_017807.4
p.E63fs
c.187_188fs
5 papers
NM_017807.4
p.I53F
c.157A>T
2 papers
NM_017807.4
p.R50*
c.148C>T
1 paper
NM_017807.4
p.H48R
c.143A>G
1 paper
NM_017807.4
p.T45fs
c.133_134fs
4 papers
NM_017807.4
p.T45insFs
c.133dupA
1 paper
NM_017807.4
p.F40L
c.120C>G
1 paper
NM_017807.4
p.F40L
c.120C>A
1 paper
NM_017807.4
p.F40L
c.118T>C
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