Varaico: Literature-Extracted Genetic Variants

Gene:DCDC2
Variant:p.G211_R212del2

DCDC2

124 papers

RefSeq Summary

This gene encodes a doublecortin domain-containing family member. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. This family member is thought to...

Pfam Domains

DCXaa 35–94UCSCDoublecortin
DCXaa 157–215UCSCDoublecortin

Gene Aliases

HGNC Name

doublecortin domain containing 2

HGNC Previous Symbol

DFNB66

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016356.5
p.G211_R212del2
c.631_635del6
Surrounding Variants
1 paper
NM_016356.5
p.K216M
c.647A>T
7 papers
NM_016356.5
p.K217*
c.649A>T
2 papers
NM_016356.5
p.V208A
c.623T>C
1 paper
NM_016356.5
p.V208E
c.623T>A
2 papers
NM_016356.5
p.P219R
c.656C>G
9 papers
NM_016356.5
p.S221G
c.661A>G
1 paper
NM_016356.5
p.S221R
c.661A>C
1 paper
NM_016356.5
p.S221N
c.662G>A
1 paper
NM_016356.5
p.S221R
c.663T>G
1 paper
NM_016356.5
p.S221R
c.663T>A
1 paper
NM_016356.5
p.E222D
c.666G>T
1 paper
NM_016356.5
p.E222D
c.666G>C
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