Varaico: Literature-Extracted Genetic Variants

Gene:DTNBP1
Variant:p.P272S

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
7 papers
NM_032122.5
p.P272S
c.814C>T
Surrounding Variants
1 paper
NM_032122.5
p.S275G
c.823A>G
3 papers
NM_032122.5
p.Q278*
c.832C>T
1 paper
NM_032122.5
p.N287K
c.861T>G
1 paper
NM_032122.5
p.E290ins1
c.869_870insGGA
1 paper
NM_032122.5
p.E290E
c.870A>G
2 papers
NM_032122.5
p.R292G
c.874A>G
1 paper
NM_032122.5
p.S299F
c.896C>T
1 paper
NM_032122.5
p.S300A
c.898T>G
1 paper
NM_032122.5
p.C302C
c.906C>T
1 paper
NM_032122.5
p.T303I
c.908C>T
1 paper
NM_032122.5
p.S305S
c.915G>C
1 paper
NM_032122.5
p.D304_S305delFs
c.912_915del4
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