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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DIXDC1

Variant:p.G8E

DIXDC1

36 papers

RefSeq Summary

The protein encoded by this gene is a positive regulator of the Wnt signaling pathway. The encoded protein is found associated with gamma tubulin at the centrosome. Alternative splicing results in mul...

Pfam Domains

CHaa 20–128UCSCCalponin homology (CH) domain

DIXaa 600–676UCSCDIX domain

Gene Aliases

HGNC Name

DIX domain containing 1

HGNC Alias Symbols

KIAA1735; Dixin

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr11:111937522 G>A

NM_001037954.4

p.G8E

c.23G>A

Exome: 0.0% (AC=38, hom=0)Genome: 0.0% (AC=8, hom=0)18 overlapping SVs

Surrounding Variants

1 paper

chr11:111937527 T>G

NM_001037954.4

p.L10V

c.28T>G

exact variant not in gnomAD18 overlapping SVs

1 paper

chr11:111937513 T>G

NM_001037954.4

p.L5R

c.14T>G

Exome: 0.0% (AC=148, hom=1)Genome: 0.0% (AC=12, hom=0)18 overlapping SVs

1 paper

chr11:111937503 C>T

NM_001037954.4

p.L2L

c.4C>T

Exome: 0.0% (AC=2, hom=0)Genome: n/a18 overlapping SVs

1 paper

chr11:111937545 G>GT

NM_001037954.4

p.E16insFs

c.46_47insT

exact variant not in gnomAD18 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."