Varaico: Literature-Extracted Genetic Variants

Gene:PEX13
Variant:p.G128V

PEX13

101 papers

RefSeq Summary

This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protei...

Pfam Domains

Peroxin-13_Naa 117–254UCSCPeroxin 13, N-terminal region
SH3_9aa 279–332UCSCVariant SH3 domain

Gene Aliases

HGNC Name

peroxisomal biogenesis factor 13

HGNC Previous Name

peroxisome biogenesis factor 13

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002618.4
p.G128V
c.383G>T
Surrounding Variants
1 paper
NM_002618.4
p.E123*
c.367G>T
1 paper
NM_002618.4
p.V119I
c.355G>A
1 paper
NM_002618.4
p.S142_V143del2
c.424_428del6
1 paper
NM_002618.4
p.L113P
c.338T>C
2 papers
NM_002618.4
p.M147del1
c.439_441delATG
1 paper
NM_002618.4
p.R109P
c.326G>C
1 paper
NM_002618.4
p.M147I
c.441G>A
1 paper
NM_002618.4
p.M147I
c.441G>C
1 paper
NM_002618.4
p.M147I
c.441G>T
2 papers
NM_002618.4
p.R107_Q120del14
c.319_359del42
1 paper
NM_002618.4
p.N106_V119del14
c.316_356del42
1 paper
NM_002618.4
p.G104C
c.310G>T
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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."