Varaico: Literature-Extracted Genetic Variants

Gene:PEX3
Variant:p.I110_S111delFs

PEX3

89 papers

RefSeq Summary

The product of this gene is involved in peroxisome biosynthesis and integrity. It assembles membrane vesicles before the matrix proteins are translocated. Peroxins (PEXs) are proteins that are essenti...

Pfam Domains

Peroxin-3aa 7–101UCSCPeroxin-3
Peroxin-3aa 94–364UCSCPeroxin-3

Gene Aliases

HGNC Name

peroxisomal biogenesis factor 3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003630.3
p.I110_S111delFs
c.328_331del4
Surrounding Variants
1 paper
NM_003630.3
p.S98fs
c.292_293fs
1 paper
NM_003630.3
p.P97fs
c.289_290fs
1 paper
NM_003630.3
p.S98_L101delFs
c.292_302del11
1 paper
NM_003630.3
p.R96Splc
c.288-10T>A
1 paper
NM_003630.3
p.R96Splc
c.288-759A>G
1 paper
NM_003630.3
p.S111Splc
c.332-20C>G
1 paper
NM_003630.3
p.R114S
c.342A>C
1 paper
NM_003630.3
p.M124delFs
c.372delG
1 paper
NM_003630.3
p.L125P
c.374T>C
1 paper
NM_003630.3
p.R130W
c.388C>T
1 paper
NM_003630.3
p.R130Q
c.389G>A
1 paper
NM_003630.3
p.N134D
c.400A>G
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