Varaico: Literature-Extracted Genetic Variants

Gene:PEX13
Variant:p.G91R

PEX13

101 papers

RefSeq Summary

This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protei...

Pfam Domains

Peroxin-13_Naa 117–254UCSCPeroxin 13, N-terminal region
SH3_9aa 279–332UCSCVariant SH3 domain

Gene Aliases

HGNC Name

peroxisomal biogenesis factor 13

HGNC Previous Name

peroxisome biogenesis factor 13

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002618.4
p.G91R
c.271G>C
Surrounding Variants
1 paper
NM_002618.4
p.G91R
c.271G>A
1 paper
NM_002618.4
p.G104C
c.310G>T
1 paper
NM_002618.4
p.S77T
c.229T>A
1 paper
NM_002618.4
p.N106_V119del14
c.316_356del42
2 papers
NM_002618.4
p.R107_Q120del14
c.319_359del42
1 paper
NM_002618.4
p.R109P
c.326G>C
1 paper
NM_002618.4
p.L113P
c.338T>C
1 paper
NM_002618.4
p.V119I
c.355G>A
1 paper
NM_002618.4
p.Q61R
c.182A>G
1 paper
NM_002618.4
p.E123*
c.367G>T
1 paper
NM_002618.4
p.P54L
c.161C>T
1 paper
NM_002618.4
p.G128V
c.383G>T
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