Varaico: Literature-Extracted Genetic Variants

Gene:DTNBP1
Variant:p.N257D

DTNBP1

130 papers

RefSeq Summary

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein com...

Pfam Domains

Dysbindinaa 158–303UCSCDysbindin (Dystrobrevin binding protein 1)

Gene Aliases

HGNC Name

dystrobrevin binding protein 1

HGNC Alias Symbols

Dysbindin; My031; HPS7; DBND; BLOC1S8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032122.5
p.N257D
c.769A>G
Surrounding Variants
3 papers
NM_032122.5
p.N257fs
c.769_770fs
1 paper
NM_032122.5
p.L256L
c.768G>T
3 papers
NM_032122.5
p.N257_S258delFs
c.771_774del4
1 paper
NM_032122.5
p.E261G
c.782A>G
1 paper
NM_032122.5
p.S247L
c.740C>T
1 paper
NM_032122.5
p.A269T
c.805G>A
1 paper
NM_032122.5
p.G271Splc
c.811+6G>A
1 paper
NM_032122.5
p.V235L
c.703G>T
1 paper
NM_032122.5
p.N234N
c.702C>T
1 paper
NM_032122.5
p.S230F
c.689C>T
3 papers
NM_032122.5
p.G271Splc
c.811+59A>G
1 paper
NM_032122.5
p.G271Splc
c.811+78C>T
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