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

6 papers

NM_000288.4

p.C86Y

c.257G>A

Surrounding Variants

2 papers

NM_000288.4

p.D89N

c.265G>A

1 paper

NM_000288.4

p.G90G

c.270C>T

1 paper

NM_000288.4

p.V82I

c.244G>A

1 paper

NM_000288.4

p.E80K

c.238G>A

2 papers

NM_000288.4

p.W95G

c.283T>G

1 paper

NM_000288.4

p.E77A

c.230A>C

4 papers

NM_000288.4

p.W75C

c.225G>C

4 papers

NM_000288.4

p.W75C

c.225G>T

3 papers

NM_000288.4

p.W75R

c.223T>A

3 papers

NM_000288.4

p.W75R

c.223T>C

2 papers

NM_000288.4

p.A98T

c.292G>A

2 papers

NM_000288.4

p.A98V

c.293C>T