Varaico: Literature-Extracted Genetic Variants

Gene:OSGEP
Variant:p.I259F

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
3 papers
NM_017807.4
p.I259F
c.775A>T
Surrounding Variants
1 paper
NM_017807.4
p.V263A
c.788T>C
2 papers
NM_017807.4
p.H251H
c.753T>C
14 papers
NM_017807.4
p.R247Q
c.740G>A
1 paper
NM_017807.4
p.S232Y
c.695C>A
1 paper
NM_017807.4
p.C230F
c.689G>T
1 paper
NM_017807.4
p.L229M
c.685C>A
1 paper
NM_017807.4
p.C224R
c.670T>C
1 paper
NM_017807.4
p.E223K
c.667G>A
1 paper
NM_017807.4
p.A274T
c.820G>A
5 papers
NM_017807.4
p.R280C
c.838C>T
2 papers
NM_017807.4
p.R280L
c.839G>T
4 papers
NM_017807.4
p.R280H
c.839G>A
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