Varaico: Literature-Extracted Genetic Variants

Gene:DCX
Variant:p.R186C

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
18 papers
NM_001195553.2
p.R186C
c.556C>T
Surrounding Variants
5 papers
NM_001195553.2
p.R186L
c.557G>T
5 papers
NM_001195553.2
p.R186H
c.557G>A
1 paper
NM_001195553.2
p.S187I
c.560G>T
1 paper
NM_001195553.2
p.I184N
c.551T>A
1 paper
NM_001195553.2
p.G188W
c.562G>T
1 paper
NM_001195553.2
p.G188V
c.563G>T
2 papers
NM_001195553.2
p.T183I
c.548C>T
2 papers
NM_001195553.2
p.V182F
c.544G>T
2 papers
NM_001195553.2
p.K190E
c.568A>G
1 paper
NM_001195553.2
p.S187_K190Fs
c.560_568delinsTGFs
2 papers
NM_001195553.2
p.S187_K190Fs
c.560_568delinsTGGTTACCATCATCFs
1 paper
NM_001195553.2
p.S187_K190Fs
c.560_568delinsTGGTTACFs
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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."