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

13 papers

NM_000288.4

p.Y40*

c.120C>G

Surrounding Variants

11 papers

NM_000288.4

p.Y40*

c.120C>A

1 paper

NM_000288.4

p.Y40C

c.119A>G

3 papers

NM_000288.4

p.G41R

c.121G>C

2 papers

NM_000288.4

p.G41A

c.122G>C

2 papers

NM_000288.4

p.G41V

c.122G>T

2 papers

NM_000288.4

p.H39P

c.116A>C

4 papers

NM_000288.4

p.G44Splc

c.130+1G>A

1 paper

NM_000288.4

p.G44Splc

c.130+1G>C

2 papers

NM_000288.4

p.G44Splc

c.130+3G>C

2 papers

NM_000288.4

p.L32P

c.95T>C

1 paper

NM_000288.4

p.L32L

c.94C>T

1 paper

NM_000288.4

p.R31S

c.91C>A