Varaico: Literature-Extracted Genetic Variants

Gene:DBN1
Variant:p.L600L

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
2 papers
NM_001363541.2
p.L600L
c.1798C>T
Surrounding Variants
1 paper
NM_001363541.2
p.S599A
c.1795T>G
1 paper
NM_004395.4
p.D545A
c.1634A>C
1 paper
NM_004395.4
p.C544W
c.1632T>G
1 paper
NM_004395.4
p.C544F
c.1631G>T
1 paper
NM_004395.4
p.C544Y
c.1631G>A
1 paper
NM_001363541.2
p.E613K
c.1837G>A
1 paper
NM_004395.4
p.P540A
c.1618C>G
1 paper
NM_004395.4
p.P539A
c.1615C>G
1 paper
NM_001363541.2
p.T575I
c.1724C>T
2 papers
NM_001363541.2
p.L626Q
c.1877T>A
2 papers
NM_001363541.2
p.P563T
c.1687C>A
1 paper
NM_001363541.2
p.P539L
c.1616C>T
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