Varaico: Literature-Extracted Genetic Variants

Gene:DCX
Variant:p.Q169*

DCX

244 papers

RefSeq Summary

This gene encodes a member of the doublecortin family. The protein encoded by this gene is a cytoplasmic protein and contains two doublecortin domains, which bind microtubules. In the developing corte...

Pfam Domains

DCXaa 71–133UCSCDoublecortin
DCXaa 198–257UCSCDoublecortin

Gene Aliases

HGNC Name

doublecortin

HGNC Alias Symbols

SCLH; DC; LISX; DBCN; XLIS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_001195553.2
p.Q169*
c.505C>T
NM_000555.3
p.Q250*
c.748C>T
Surrounding Variants
6 papers
NM_001195553.2
p.K174E
c.520A>G
1 paper
NM_001195553.2
p.K174M
c.521A>T
1 paper
NM_001195553.2
p.S161insFs
c.483dupC
3 papers
NM_001195553.2
p.V177G
c.530T>G
1 paper
NM_001195553.2
p.V177E
c.530T>A
1 paper
NM_001195553.2
p.Q160delFs
c.478delG
1 paper
NM_001195553.2
p.Q160fs
c.478_479fs
8 papers
NM_001195553.2
p.R178C
c.532C>T
1 paper
NM_001195553.2
p.R178G
c.532C>G
11 papers
NM_001195553.2
p.R178L
c.533G>T
1 paper
NM_001195553.2
p.R178delFs
c.533delC
1 paper
NM_001195553.2
p.P179L
c.536C>T
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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."