Varaico: Literature-Extracted Genetic Variants

Gene:PEX5L
Variant:p.R533*

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
2 papers
NM_016559.3
p.R533*
c.1597C>T
Surrounding Variants
1 paper
NM_016559.3
p.V528L
c.1582G>T
1 paper
NM_016559.3
p.R545K
c.1634G>A
1 paper
NM_016559.3
p.N547D
c.1639A>G
1 paper
NM_016559.3
p.D495G
c.1484A>G
1 paper
NM_016559.3
p.G436E
c.1307G>A
1 paper
NM_016559.3
p.T405T
c.1215T>A
1 paper
NM_016559.3
p.T405A
c.1213A>G
1 paper
NM_016559.3
p.L394*
c.1181T>G
1 paper
NM_016559.3
p.L394*
c.1181T>A
1 paper
NM_016559.3
p.L387fs
c.1159_1160fs
1 paper
NM_016559.3
p.C386fs
c.1156_1157fs
1 paper
NM_001349404.2
p.F173C
c.518T>G
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