Varaico: Literature-Extracted Genetic Variants

PEX5

150 papers

RefSeq Summary

The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins th...

Pfam Domains

TPR_16aa 339–402UCSCTetratricopeptide repeat

TPR_16aa 521–577UCSCTetratricopeptide repeat

TPR_8aa 556–589UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

peroxisomal biogenesis factor 5

HGNC Previous Symbol

PXR1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001351132.2

p.R220W

c.658C>T

Surrounding Variants

2 papers

NM_001351132.2

p.F218L

c.654C>A

2 papers

NM_001351132.2

p.F218L

c.654C>G

1 paper

NM_001351132.2

p.F218F

c.654C>T

3 papers

NM_001351132.2

p.F218S

c.653T>C

2 papers

NM_001351132.2

p.F218L

c.652T>C

1 paper

NM_001351132.2

p.E214_F215Splc

c.643-2A>C

2 papers

NM_001131023.2

p.Q241insFs

c.722dupA

2 papers

NM_001131023.2

p.V242fs

c.724_725fs

1 paper

NM_001131023.2

p.V242G

c.725T>G

1 paper

NM_001351132.2

p.S228insFs

c.683_684insG

1 paper

NM_001351132.2

p.S228F

c.683C>T

1 paper

NM_001351132.2

p.S228_L229insFs

c.684_685insG