Varaico: Literature-Extracted Genetic Variants

Gene:DCX
Variant:p.S47R

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
17 papers
NM_001195553.2
p.S47R
c.139A>C
Surrounding Variants
6 papers
NM_001195553.2
p.S47N
c.140G>A
16 papers
NM_001195553.2
p.S47R
c.141T>G
16 papers
NM_001195553.2
p.S47R
c.141T>A
1 paper
NM_001195553.2
p.E49A
c.146A>C
1 paper
NM_001195553.2
p.Q44*
c.130C>T
1 paper
NM_001195553.2
p.K50E
c.148A>G
6 papers
NM_001195553.2
p.L43S
c.128T>C
3 papers
NM_001195553.2
p.K50N
c.150G>T
2 papers
NM_001195553.2
p.K50N
c.150G>C
1 paper
NM_001195553.2
p.K51E
c.151A>G
2 papers
NM_001195553.2
p.T42I
c.125C>T
1 paper
NM_001195553.2
p.T42A
c.124A>G
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