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

1–12 of 147 variants

45 papers

NM_000288.4

p.L292*

c.875T>A

36 papers

NM_000288.4

p.L292*

c.875T>G

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

13 papers

NM_000288.4

p.Y40*

c.120C>G

11 papers

NM_000288.4

p.Y40*

c.120C>A

11 papers

NM_000288.4

p.R232*

c.694C>T

10 papers

NM_000288.4

p.Q301_V302Splc

c.903+1G>C

8 papers

NM_000288.4

p.H285R

c.854A>G

6 papers

NM_000288.4

p.S25F

c.74C>T

6 papers

NM_000288.4

p.C86Y

c.257G>A