Varaico: Literature-Extracted Genetic Variants

Gene:DTNBP1
Variant:p.P40S

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.P40S
c.118C>T
Surrounding Variants
1 paper
NM_032122.5
p.L42S
c.125T>C
1 paper
NM_032122.5
p.R37Splc
c.111-1G>T
1 paper
NM_032122.5
p.R37Splc
c.111-2A>T
2 papers
NM_032122.5
p.R37Splc
c.111-2A>G
1 paper
NM_032122.5
p.A47G
c.140C>G
1 paper
NM_032122.5
p.E50*
c.148G>T
1 paper
NM_032122.5
p.S53_R54insFs
c.159_160ins4
1 paper
NM_032122.5
p.P36P
c.108C>G
1 paper
NM_032122.5
p.S27S
c.81A>G
1 paper
NM_032122.5
p.D25E
c.75C>G
1 paper
NM_032122.5
p.D25E
c.75C>A
1 paper
NM_032122.5
p.D25Y
c.73G>T
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