Varaico: Literature-Extracted Genetic Variants

Gene:DCX
Variant:p.R39*

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
13 papers
NM_001195553.2
p.R39*
c.115C>T
NM_000555.3
p.R120*
c.358C>T
Surrounding Variants
1 paper
NM_001195553.2
p.T42A
c.124A>G
3 papers
NM_001195553.2
p.T42P
c.124A>C
2 papers
NM_001195553.2
p.T42I
c.125C>T
6 papers
NM_001195553.2
p.L43S
c.128T>C
1 paper
NM_001195553.2
p.Q44*
c.130C>T
1 paper
NM_001195553.2
p.A33V
c.98C>T
1 paper
NM_001195553.2
p.A33P
c.97G>C
1 paper
NM_001195553.2
p.S32N
c.95G>A
17 papers
NM_001195553.2
p.S47R
c.139A>C
6 papers
NM_001195553.2
p.S47N
c.140G>A
16 papers
NM_001195553.2
p.S47R
c.141T>G
16 papers
NM_001195553.2
p.S47R
c.141T>A
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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."