Varaico: Literature-Extracted Genetic Variants

Gene:PEX5L
Variant:p.N321N

PEX5L

57 papers

Pfam Domains

TPR_8aa 360–393UCSCTetratricopeptide repeat
TPR_16aa 487–540UCSCTetratricopeptide repeat
TPR_8aa 542–575UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

peroxisomal biogenesis factor 5 like

HGNC Alias Symbols

PEX5R; PXR2; TRIP8b

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016559.3
p.N321N
c.963C>T
Surrounding Variants
1 paper
NM_016559.3
p.P322P
c.966C>T
1 paper
NM_016559.3
p.Y316C
c.947A>G
1 paper
NM_016559.3
p.G314*
c.940G>T
1 paper
NM_016559.3
p.K335Q
c.1003A>C
1 paper
NM_016559.3
p.A310T
c.928G>A
1 paper
NM_016559.3
p.N294I
c.881A>T
2 papers
NM_016559.3
p.T277I
c.830C>T
1 paper
NM_016559.3
p.T277A
c.829A>G
1 paper
NM_001349404.2
p.F173C
c.518T>G
1 paper
NM_016559.3
p.C386fs
c.1156_1157fs
1 paper
NM_016559.3
p.L387fs
c.1159_1160fs
1 paper
NM_016559.3
p.L394*
c.1181T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."