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.C5F

c.14G>T

Surrounding Variants

1 paper

NM_000288.4

p.G7fs

c.19_20fs

1 paper

NM_000288.4

p.A3E

c.8C>A

1 paper

NM_000288.4

p.S2insFs

c.5_6ins4

2 papers

NM_000288.4

p.V4_G6insFs

c.12_18dup7

2 papers

NM_000288.4

p.M1T

c.2T>C

2 papers

NM_000288.4

p.L12P

c.35T>C

1 paper

NM_000288.4

p.R13insFs

c.38dupG

2 papers

NM_000288.4

p.H18insFs

c.52_53ins8

5 papers

NM_000288.4

p.T14P

c.40A>C

1 paper

NM_000288.4

p.T14S

c.40A>T

1 paper

NM_000288.4

p.P15fs

c.43_44fs

2 papers

NM_000288.4

p.H18_G19ins2

c.54_55ins6