Varaico: Literature-Extracted Genetic Variants

Gene:OSGEPL1
Variant:p.V394A

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.V394A
c.1181T>C
Surrounding Variants
1 paper
NM_022353.3
p.P408fs
c.1222_1223fs
1 paper
NM_022353.3
p.K411N
c.1233A>T
1 paper
NM_022353.3
p.K411N
c.1233A>C
1 paper
NM_022353.3
p.I414V
c.1240A>G
2 papers
NM_022353.3
p.L378insFs
c.1133dupT
3 papers
NM_022353.3
p.L378fs
c.1132_1133fs
1 paper
NM_022353.3
p.R372H
c.1115G>A
1 paper
NM_022353.3
p.C350*
c.1050T>A
1 paper
NM_022353.3
p.V327F
c.979G>T
1 paper
NM_022353.3
p.G325D
c.974G>A
1 paper
NM_022353.3
p.K299R
c.896A>G
1 paper
NM_022353.3
p.K299E
c.895A>G
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