Varaico: Literature-Extracted Genetic Variants

Gene:PEX13
Variant:p.N357S

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.N357S
c.1070A>G
Surrounding Variants
5 papers
NM_002618.4
p.L360V
c.1078C>G
1 paper
NM_002618.4
p.S349T
c.1045T>A
1 paper
NM_002618.4
p.K347N
c.1041A>C
1 paper
NM_002618.4
p.K347N
c.1041A>T
1 paper
NM_002618.4
p.S345*
c.1034C>A
1 paper
NM_002618.4
p.S345*
c.1034C>G
1 paper
NM_002618.4
p.T342M
c.1025C>T
1 paper
NM_002618.4
p.A375P
c.1123G>C
1 paper
NM_002618.4
p.R337T
c.1010G>C
1 paper
NM_002618.4
p.N385K
c.1155T>A
1 paper
NM_002618.4
p.N385K
c.1155T>G
1 paper
NM_002618.4
p.A328A
c.984G>A
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