Varaico: Literature-Extracted Genetic Variants

Gene:DCX
Variant:p.S128F

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.S128F
c.383C>T
Surrounding Variants
1 paper
NM_001195553.2
p.S129A
c.385T>G
1 paper
NM_001195553.2
p.C127Y
c.380G>A
5 papers
NM_001195553.2
p.S129L
c.386C>T
1 paper
NM_001195553.2
p.V126D
c.377T>A
2 papers
NM_001195553.2
p.Y125F
c.374A>T
2 papers
NM_001195553.2
p.Y125S
c.374A>C
10 papers
NM_001195553.2
p.Y125D
c.373T>G
14 papers
NM_001195553.2
p.Y125H
c.373T>C
2 papers
NM_001195553.2
p.E123D
c.369A>T
1 paper
NM_001195553.2
p.K134*
c.400A>T
1 paper
NM_001195553.2
p.K134E
c.400A>G
1 paper
NM_001195553.2
p.K134T
c.401A>C
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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."