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

1 paper

NM_001351132.2

p.T262I

c.785C>T

Surrounding Variants

1 paper

NM_001351132.2

p.R263*

c.787A>T

1 paper

NM_001351132.2

p.D255_W257del3

c.763_770del9

1 paper

NM_001351132.2

p.S254P

c.760T>C

1 paper

NM_001351132.2

p.M272T

c.815T>C

3 papers

NM_001351132.2

p.R276*

c.826C>T

1 paper

NM_001351132.2

p.E282_S283Splc

c.846+1G>C

1 paper

NM_001351132.2

p.Q250H

c.750G>C

1 paper

NM_001351132.2

p.Q250H

c.750G>T

3 papers

NM_001351132.2

p.E241insFs

c.722dupA

1 paper

NM_001351132.2

p.A240_F247insFs

c.719_740dup22

1 paper

NM_001351132.2

p.S235insFs

c.704_705insA

1 paper

NM_001351132.2

p.E230Q

c.688G>C