Varaico: Literature-Extracted Genetic Variants

Gene:PEX2
Variant:p.L93_Y95delFs

PEX2

118 papers

RefSeq Summary

This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result...

Pfam Domains

Pex2_Pex12aa 26–225UCSCPex2 / Pex12 amino terminal region

Gene Aliases

HGNC Name

peroxisomal biogenesis factor 2

HGNC Previous Symbol

PXMP3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000318.3
p.L93_Y95delFs
c.279_283del5
Surrounding Variants
1 paper
NM_000318.3
p.Q96*
c.286C>T
2 papers
NM_000318.3
p.R94S
c.282A>T
2 papers
NM_000318.3
p.R94S
c.282A>C
2 papers
NM_000318.3
p.R94fs
c.280_281fs
1 paper
NM_000318.3
p.Q96Q
c.288G>A
2 papers
NM_000318.3
p.P98S
c.292C>T
3 papers
NM_000318.3
p.P91delFs
c.273delA
2 papers
NM_000318.3
p.P91fs
c.271_272fs
1 paper
NM_000318.3
p.S99N
c.296G>A
1 paper
NM_000318.3
p.S90F
c.269C>T
1 paper
NM_000318.3
p.C109insFs
c.325_326insT
1 paper
NM_000318.3
p.Y106_I111del6
c.316_332del18
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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."