Varaico: Literature-Extracted Genetic Variants

PEX7

182 papers

RefSeq Summary

This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenes...

Pfam Domains

WD40aa 21–58UCSCWD domain, G-beta repeat

WD40aa 63–103UCSCWD domain, G-beta repeat

WD40aa 107–146UCSCWD domain, G-beta repeat

WD40aa 152–189UCSCWD domain, G-beta repeat

WD40aa 194–233UCSCWD domain, G-beta repeat

WD40aa 238–277UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

peroxisomal biogenesis factor 7

HGNC Alias Symbol

PTS2R

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000288.4

p.E287D

c.861G>C

Surrounding Variants

1 paper

NM_000288.4

p.T289I

c.866C>T

8 papers

NM_000288.4

p.H285R

c.854A>G

1 paper

NM_000288.4

p.C290_G291ins1

c.870_871insCAA

1 paper

NM_000288.4

p.G291ins1

c.871_872insCAA

1 paper

NM_000288.4

p.G291_L292ins1

c.873_874insCAA

45 papers

NM_000288.4

p.L292*

c.875T>A

36 papers

NM_000288.4

p.L292*

c.875T>G

1 paper

NM_000288.4

p.L292F

c.876A>T

1 paper

NM_000288.4

p.T281delFs

c.842delC

1 paper

NM_000288.4

p.L296fs

c.886_887fs

1 paper

NM_000288.4

p.S298N

c.893G>A

1 paper

NM_000288.4

p.P275S

c.823C>T