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.P26P

c.78G>C

Surrounding Variants

1 paper

NM_000288.4

p.P26L

c.77C>T

6 papers

NM_000288.4

p.S25F

c.74C>T

3 papers

NM_000288.4

p.P29S

c.85C>T

1 paper

NM_000288.4

p.P29L

c.86C>T

1 paper

NM_000288.4

p.R31S

c.91C>A

1 paper

NM_000288.4

p.L32L

c.94C>T

1 paper

NM_000288.4

p.A22delFs

c.64_65delGC

2 papers

NM_000288.4

p.L32P

c.95T>C

1 paper

NM_000288.4

p.Y20*

c.60C>A

1 paper

NM_000288.4

p.Y20*

c.60C>G

2 papers

NM_000288.4

p.Y20C

c.59A>G

2 papers

NM_000288.4

p.H18_G19ins2

c.54_55ins6