Varaico: Literature-Extracted Genetic Variants

Gene:PEX2
Variant:p.S222*

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
1 paper
NM_000318.3
p.S222*
c.665C>A
Surrounding Variants
1 paper
NM_000318.3
p.S222*
c.665C>G
6 papers
NM_000318.3
p.W223*
c.668G>A
6 papers
NM_000318.3
p.W223*
c.669G>A
1 paper
NM_000318.3
p.A218V
c.653C>T
1 paper
NM_000318.3
p.A218S
c.652G>T
2 papers
NM_000318.3
p.Q214delFs
c.642delC
1 paper
NM_000318.3
p.Q214R
c.641A>G
1 paper
NM_000318.3
p.I211insFs
c.631dupA
1 paper
NM_000318.3
p.I211fs
c.631_632fs
1 paper
NM_000318.3
p.N235insFs
c.704_705insA
1 paper
NM_000318.3
p.N235K
c.705T>G
1 paper
NM_000318.3
p.N235K
c.705T>A
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