Varaico: Literature-Extracted Genetic Variants

Gene:PEX26
Variant:p.L116P

PEX26

124 papers

RefSeq Summary

This gene belongs to the peroxin-26 gene family. It is probably required for protein import into peroxisomes. It anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase ...

Pfam Domains

Pex26aa 1–302UCSCPex26 protein

Gene Aliases

HGNC Name

peroxisomal biogenesis factor 26

HGNC Alias Symbol

FLJ20695

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001127649.3
p.L116P
c.347T>C
Surrounding Variants
2 papers
NM_001127649.3
p.L116Q
c.347T>A
1 paper
NM_001127649.3
p.P118delFs
c.354delC
1 paper
NM_001127649.3
p.L116delFs
c.347delT
2 papers
NM_001127649.3
p.P117T
c.349C>A
10 papers
NM_001127649.3
p.P117L
c.350C>T
9 papers
NM_001127649.3
p.P118R
c.353C>G
1 paper
NM_001127649.3
p.P118L
c.353C>T
1 paper
NM_001127649.3
p.K119T
c.356A>C
1 paper
NM_001127649.3
p.V120fs
c.358_359fs
3 papers
NM_001127649.3
p.V120G
c.359T>G
1 paper
NM_001127649.3
p.V120V
c.360C>A
1 paper
NM_001127649.3
p.L121L
c.361C>T
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