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.L228_R229insFs

c.684_685insG

Surrounding Variants

1 paper

NM_000288.4

p.L228insFs

c.683_684insG

1 paper

NM_000288.4

p.D227Y

c.679G>T

11 papers

NM_000288.4

p.R232*

c.694C>T

3 papers

NM_000288.4

p.R232Q

c.695G>A

1 paper

NM_000288.4

p.G225C

c.673G>T

21 papers

NM_000288.4

p.A218V

c.653C>T

19 papers

NM_000288.4

p.G217R

c.649G>A

18 papers

NM_000288.4

p.G217R

c.649G>C

2 papers

NM_000288.4

p.H241L

c.722A>T

1 paper

NM_000288.4

p.L214_V219delFs

c.640_656del17

2 papers

NM_000288.4

p.I245F

c.733A>T

1 paper

NM_000288.4

p.K249_F250Splc

c.747+730T>C