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.A101S

c.301G>T

Surrounding Variants

2 papers

NM_000288.4

p.A98V

c.293C>T

2 papers

NM_000288.4

p.A98T

c.292G>A

1 paper

NM_000288.4

p.V106_A111del6

c.316_332del18

1 paper

NM_000288.4

p.Y107_K108delFs

c.321_322delTA

2 papers

NM_000288.4

p.W95G

c.283T>G

1 paper

NM_000288.4

p.Y107*

c.321T>A

1 paper

NM_000288.4

p.Y107*

c.321T>G

2 papers

NM_000288.4

p.H110R

c.329A>G

1 paper

NM_000288.4

p.G90G

c.270C>T

2 papers

NM_000288.4

p.Q112*

c.334C>T

2 papers

NM_000288.4

p.D89N

c.265G>A

1 paper

NM_000288.4

p.E113Q

c.337G>C