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

4 papers

NM_001351132.2

p.K209R

c.626A>G

Surrounding Variants

1 paper

NM_001351132.2

p.D206E

c.618T>A

1 paper

NM_001351132.2

p.D206E

c.618T>G

1 paper

NM_001351132.2

p.D206A

c.617A>C

1 paper

NM_001351132.2

p.E214A

c.641A>C

1 paper

NM_001351132.2

p.K204R

c.611A>G

1 paper

NM_001351132.2

p.K204E

c.610A>G

1 paper

NM_001351132.2

p.E214_F215Splc

c.642+1G>A

2 papers

NM_001351132.2

p.V202L

c.604G>C

1 paper

NM_001351132.2

p.V202L

c.604G>T

1 paper

NM_001351132.2

p.Q195*

c.583C>T

1 paper

NM_001351132.2

p.E214_F215Splc

c.643-2A>C

2 papers

NM_001351132.2

p.F218L

c.652T>C