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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PEX11A

PEX11A

17 papers

RefSeq Summary

This gene is a member of the PEX11 family, which is composed of membrane elongation factors involved in regulation of peroxisome maintenance and proliferation. This gene product interacts with peroxis...

Pfam Domains

PEX11aa 1–238UCSCPeroxisomal biogenesis factor 11 (PEX11)

Gene Aliases

HGNC Name

peroxisomal biogenesis factor 11 alpha

HGNC Alias Symbols

PEX11alpha; PEX11α; PMP28; MGC119947; MGC138534

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr15:89683709 C>T

NM_003847.3

p.D138N

c.412G>A

PEX11

exact variant not in gnomAD10 overlapping SVs

1 paper

chr15:89690608 T>C

NM_003847.3

p.N9D

c.25A>G

PEX11

Exome: 0.0% (AC=0, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr15:89683921 G>C

NM_003847.3

p.A67G

c.200C>G

PEX11

Exome: 0.0% (AC=1, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr15:89683914 C>A

NM_003847.3

p.Q69H

c.207G>T

PEX11

exact variant not in gnomAD10 overlapping SVs

1 paper

chr15:89683914 C>G

NM_003847.3

p.Q69H

c.207G>C

PEX11

exact variant not in gnomAD10 overlapping SVs

1 paper

chr15:89683883 G>C

NM_003847.3

p.L80V

c.238C>G

PEX11

exact variant not in gnomAD10 overlapping SVs

1 paper

chr15:89683843 C>T

NM_003847.3

p.R93H

c.278G>A

PEX11

Exome: 0.0% (AC=282, hom=1)Genome: 0.0% (AC=38, hom=0)10 overlapping SVs

1 paper

chr15:89683769 T>C

NM_003847.3

p.K118E

c.352A>G

PEX11

exact variant not in gnomAD10 overlapping SVs

1 paper

chr15:89683763 G>A

NM_001271572.2

p.R89*

c.265C>T

PEX11

Exome: 0.0% (AC=3, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr15:89683716 C>A

NM_003847.3

p.L135L

c.405G>T

PEX11

Exome: 67.8% (AC=990348, hom=342258)Genome: 63.9% (AC=97243, hom=31841)10 overlapping SVs

1 paper

chr15:89683700 C>G

NM_003847.3

p.E141Q

c.421G>C

PEX11

exact variant not in gnomAD10 overlapping SVs

1 paper

chr15:89683471 G>A

NM_003847.3

p.S217F

c.650C>T

PEX11

exact variant not in gnomAD10 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."