Varaico: Literature-Extracted Genetic Variants

Gene:PEX13
Variant:p.L171insFs

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.L171insFs
c.512_513insGC
Surrounding Variants
1 paper
NM_002618.4
p.R170fs
c.508_509fs
1 paper
NM_002618.4
p.R170*
c.508C>T
2 papers
NM_002618.4
p.K177del1
c.529_530delAAA
1 paper
NM_002618.4
p.A165P
c.493G>C
1 paper
NM_002618.4
p.S157N
c.470G>A
1 paper
NM_002618.4
p.R189L
c.566G>T
2 papers
NM_002618.4
p.L191_Y192delFs
c.573_574delTT
1 paper
NM_002618.4
p.Y192fs
c.574_575fs
1 paper
NM_002618.4
p.R194Q
c.581G>A
1 paper
NM_002618.4
p.M147I
c.441G>A
1 paper
NM_002618.4
p.M147I
c.441G>C
1 paper
NM_002618.4
p.M147I
c.441G>T
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