Varaico: Literature-Extracted Genetic Variants

Gene:DBN1
Variant:p.V300V

DBN1

77 papers

RefSeq Summary

The protein encoded by this gene is a cytoplasmic actin-binding protein thought to play a role in the process of neuronal growth. It is a member of the drebrin family of proteins that are developmenta...

Pfam Domains

Cofilin_ADFaa 5–134UCSCCofilin/tropomyosin-type actin-binding protein

Gene Aliases

HGNC Name

drebrin 1

HGNC Previous Symbol

D0S117E

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001363541.2
p.V300V
c.900C>G
Surrounding Variants
1 paper
NM_001363541.2
p.D309G
c.926A>G
1 paper
NM_001363541.2
p.R291R
c.873G>A
1 paper
NM_001363541.2
p.N315_H316insFs
c.945_946insC
1 paper
NM_001363541.2
p.P318insFs
c.952_953insA
1 paper
NM_001363541.2
p.I283L
c.847A>C
1 paper
NM_001363541.2
p.A280E
c.839C>A
2 papers
NM_001363541.2
p.E278K
c.832G>A
3 papers
NM_001363541.2
p.E277_E278Splc
c.832-1G>T
2 papers
NM_001363541.2
p.E277V
c.830A>T
1 paper
NM_001363541.2
p.D259N
c.775G>A
1 paper
NM_001363541.2
p.G319Splc
c.956-14G>T
1 paper
NM_001363541.2
p.G319A
c.956G>C
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