Varaico: Literature-Extracted Genetic Variants

Gene:DCX
Variant:p.K134insFs

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.K134insFs
c.401dupA
Surrounding Variants
1 paper
NM_001195553.2
p.K135fs
c.403_404fs
2 papers
NM_001195553.2
p.K135delFs
c.403_404delTT
1 paper
NM_001195553.2
p.K135*
c.403A>T
1 paper
NM_001195553.2
p.K134T
c.401A>C
1 paper
NM_001195553.2
p.K134*
c.400A>T
1 paper
NM_001195553.2
p.K134E
c.400A>G
4 papers
NM_001195553.2
p.Y138H
c.412T>C
1 paper
NM_001195553.2
p.Y138C
c.413A>G
1 paper
NM_001195553.2
p.N141D
c.421A>G
5 papers
NM_001195553.2
p.S129L
c.386C>T
1 paper
NM_001195553.2
p.S129A
c.385T>G
1 paper
NM_001195553.2
p.S128F
c.383C>T
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