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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PEX13

Variant:p.K10fs

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr2:61017787 AAA>N

NM_002618.4

p.K10fs

c.28_29fs

exact variant not in gnomAD133 overlapping SVs

Surrounding Variants

1 paper

chr2:61017791 C>T

NM_002618.4

p.P11L

c.32C>T

Exome: 0.0% (AC=447, hom=0)Genome: 0.0% (AC=30, hom=0)133 overlapping SVs

1 paper

chr2:61017780 T>TC

NM_002618.4

p.P9insFs

c.27dupC

exact variant not in gnomAD133 overlapping SVs

1 paper

chr2:61017764 C>CG

NM_002618.4

p.A2insFs

c.6dupG

exact variant not in gnomAD133 overlapping SVs

1 paper

chr2:61017761 T>C

NM_002618.4

p.M1T

c.2T>C

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=3, hom=0)133 overlapping SVs

1 paper

chr2:61017761 T>G

NM_002618.4

p.M1R

c.2T>G

exact variant not in gnomAD133 overlapping SVs

2 papers

chr2:61017760 A>G

NM_002618.4

p.M1V

c.1A>G

Exome: 0.0% (AC=27, hom=0)Genome: 0.0% (AC=1, hom=0)134 overlapping SVs

1 paper

chr2:61017826 G>A

NM_002618.4

p.G23R

c.67G>A

Exome: 0.0% (AC=12, hom=1)Genome: 0.0% (AC=1, hom=0)133 overlapping SVs

1 paper

chr2:61017826 G>C

NM_002618.4

p.G23R

c.67G>C

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=2, hom=0)133 overlapping SVs

1 paper

chr2:61017853 T>G

NM_002618.4

p.Q31Splc

c.92+2T>G

Exome: 0.0% (AC=1, hom=0)Genome: n/a133 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."