Varaico: Literature-Extracted Genetic Variants

Gene:DBN1
Variant:p.L43_A44del1

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.L43_A44del1
c.129_131delGCA
Surrounding Variants
1 paper
NM_001363541.2
p.A44P
c.130G>C
1 paper
NM_001363541.2
p.A44T
c.130G>A
1 paper
NM_001363541.2
p.L41_A45del0
c.123_134del12
1 paper
NM_001363541.2
p.L41_S46del0
c.121_138del18
1 paper
NM_001363541.2
p.S38_S46del0
c.112_138del27
1 paper
NM_001363541.2
p.E35_S46del0
c.103_138del36
1 paper
NM_001363541.2
p.D39_L41delins
c.116_122delinsC
1 paper
NM_001363541.2
p.E35_D40del0
c.105_119del15
1 paper
NM_001363541.2
p.D36del1
c.106_108delATC
1 paper
NM_001363541.2
p.E35K
c.103G>A
1 paper
NM_001363541.2
p.G49E
c.146G>A
1 paper
NM_001363541.2
p.F58L
c.174T>A
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."