Varaico: Literature-Extracted Genetic Variants

Gene:DTNBP1
Variant:p.E223Splc

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
2 papers
NM_032122.5
p.E223Splc
c.667+48G>T
Surrounding Variants
1 paper
NM_032122.5
p.E223Splc
c.667+2C>T
2 papers
NM_032122.5
p.A219T
c.655G>A
1 paper
NM_032122.5
p.G214D
c.641G>A
1 paper
NM_032122.5
p.S212S
c.636C>T
1 paper
NM_032122.5
p.S212F
c.635C>T
1 paper
NM_032122.5
p.D206D
c.618C>T
1 paper
NM_032122.5
p.Q188*
c.562C>T
1 paper
NM_032122.5
p.M184I
c.552G>C
1 paper
NM_032122.5
p.A178insFs
c.532_533insC
1 paper
NM_032122.5
p.S230F
c.689C>T
1 paper
NM_032122.5
p.N234N
c.702C>T
1 paper
NM_032122.5
p.V235L
c.703G>T
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