Varaico: Literature-Extracted Genetic Variants

Gene:DCX
Variant:p.T222I

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
3 papers
NM_001195553.2
p.T222I
c.665C>T
Surrounding Variants
2 papers
NM_001195553.2
p.G223R
c.667G>C
2 papers
NM_001195553.2
p.G223R
c.667G>A
3 papers
NM_001195553.2
p.G223V
c.668G>T
7 papers
NM_001195553.2
p.G223E
c.668G>A
1 paper
NM_001195553.2
p.K219Q
c.655A>C
3 papers
NM_001195553.2
p.K227N
c.681A>T
3 papers
NM_001195553.2
p.K227N
c.681A>C
1 paper
NM_001195553.2
p.K227_L228insFs
c.681_682insA
1 paper
NM_001195553.2
p.K227delFs
c.681delT
2 papers
NM_001195553.2
p.L228R
c.683T>G
6 papers
NM_001195553.2
p.L228P
c.683T>C
3 papers
NM_001195553.2
p.E216*
c.646G>T
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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."