Varaico: Literature-Extracted Genetic Variants

Gene:DCX
Variant:p.R78L

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.R78L
c.233G>T
Surrounding Variants
10 papers
NM_001195553.2
p.R78H
c.233G>A
6 papers
NM_001195553.2
p.R78C
c.232C>T
1 paper
NM_001195553.2
p.R78R
c.234C>G
1 paper
NM_001195553.2
p.F80Y
c.239T>A
1 paper
NM_001195553.2
p.R76P
c.227G>C
2 papers
NM_001195553.2
p.R76C
c.226C>T
5 papers
NM_001195553.2
p.R76S
c.226C>A
1 paper
NM_001195553.2
p.S74F
c.221C>T
1 paper
NM_001195553.2
p.S73F
c.218C>T
1 paper
NM_001195553.2
p.F80_L84delFs
c.239_251del13
10 papers
NM_001195553.2
p.A71S
c.211G>T
1 paper
NM_000555.3
p.D167Y
c.499G>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."