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.S600L

c.1799C>T

Surrounding Variants

2 papers

NM_001351132.2

p.S600W

c.1799C>G

1 paper

NM_001351132.2

p.E601fs

c.1801_1802fs

1 paper

NM_001351132.2

p.S605N

c.1814G>A

1 paper

NM_001351132.2

p.R608C

c.1822C>T

1 paper

NM_001351132.2

p.R590W

c.1768C>T

1 paper

NM_001351132.2

p.Q616Q

c.1848G>A

1 paper

NM_001351132.2

p.A619G

c.1856C>G

2 papers

NM_001351132.2

p.T633_M634insFs

c.1897_1900dup4

1 paper

NM_001351132.2

p.M634V

c.1900A>G

2 papers

NM_001351132.2

p.M634fs

c.1900_1901fs

1 paper

NM_001351132.2

p.R573Splc

c.1718+2T>C

1 paper

NM_001351132.2

p.A571T

c.1711G>A