Varaico: Literature-Extracted Genetic Variants

Gene:DCX
Variant:p.P191R

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
10 papers
NM_001195553.2
p.P191R
c.572C>G
Surrounding Variants
2 papers
NM_001195553.2
p.P191L
c.572C>T
1 paper
NM_001195553.2
p.P191T
c.571C>A
22 papers
NM_001195553.2
p.R192W
c.574C>T
1 paper
NM_001195553.2
p.K190_R192Fs
c.568_576delinsTGFs
2 papers
NM_001195553.2
p.K190E
c.568A>G
1 paper
NM_001195553.2
p.S187_K190Fs
c.560_568delinsTGFs
2 papers
NM_001195553.2
p.S187_K190Fs
c.560_568delinsTGGTTACCATCATCFs
1 paper
NM_001195553.2
p.S187_K190Fs
c.560_568delinsTGGTTACFs
1 paper
NM_001195553.2
p.K193*
c.577A>T
5 papers
NM_001195553.2
p.K193E
c.577A>G
1 paper
NM_001195553.2
p.A194P
c.580G>C
1 paper
NM_001195553.2
p.G188V
c.563G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."