Varaico: Literature-Extracted Genetic Variants

Gene:DCX
Variant:p.L199P

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
1 paper
NM_001195553.2
p.L199P
c.596T>C
Surrounding Variants
1 paper
NM_001195553.2
p.L198P
c.593T>C
2 papers
NM_001195553.2
p.N200I
c.599A>T
8 papers
NM_001195553.2
p.N200K
c.600C>G
7 papers
NM_001195553.2
p.N200K
c.600C>A
1 paper
NM_001195553.2
p.K201E
c.601A>G
14 papers
NM_001195553.2
p.R196H
c.587G>A
2 papers
NM_001195553.2
p.K202M
c.605A>T
5 papers
NM_001195553.2
p.R196C
c.586C>T
1 paper
NM_001195553.2
p.R196G
c.586C>G
5 papers
NM_001195553.2
p.R196S
c.586C>A
4 papers
NM_001195553.2
p.T203S
c.607A>T
7 papers
NM_001195553.2
p.T203A
c.607A>G
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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."