Varaico: Literature-Extracted Genetic Variants

Gene:PEX13
Variant:p.M40I

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.M40I
c.120G>A
Surrounding Variants
1 paper
NM_002618.4
p.M40I
c.120G>C
1 paper
NM_002618.4
p.M40I
c.120G>T
1 paper
NM_002618.4
p.R42_V51delFs
c.126_151del26
1 paper
NM_002618.4
p.R42I
c.125G>T
1 paper
NM_002618.4
p.P43_T49delFs
c.129_147del19
1 paper
NM_002618.4
p.G36fs
c.106_107fs
1 paper
NM_002618.4
p.G36fs
c.106_107fs
5 papers
NM_002618.4
p.G36_M40delFs
c.107_120del14
1 paper
NM_002618.4
p.D34H
c.100G>C
1 paper
NM_002618.4
p.L48delFs
c.142_143delCT
1 paper
NM_002618.4
p.S32F
c.95C>T
1 paper
NM_002618.4
p.P54L
c.161C>T
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