Varaico: Literature-Extracted Genetic Variants

HPS1

308 papers

RefSeq Summary

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different prot...

Pfam Domains

Fuz_longin_1aa 2–159UCSCFirst Longin domain of FUZ, MON1 and HPS1

Fuz_longin_2aa 204–266UCSCSecond Longin domain of FUZ, MON1 and HPS1

Fuz_longin_2aa 204–405UCSCSecond Longin domain of FUZ, MON1 and HPS1

Fuz_longin_3aa 540–695UCSCThird Longin domain of FUZ, MON1 and HPS1

Gene Aliases

HGNC Name

HPS1 biogenesis of lysosomal organelles complex 3 subunit 1

HGNC Alias Symbol

BLOC3S1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000195.5

p.M325insFs

c.974_975insC

Surrounding Variants

6 papers

NM_000195.5

p.M325fs

c.973_974fs

17 papers

NM_000195.5

p.M325fs

c.973_974fs

26 papers

NM_000195.5

p.P324insFs

c.972dupC

1 paper

NM_000195.5

p.P324_M325insFs

c.972_973insCC

14 papers

NM_000195.5

p.P324delFs

c.972delG

1 paper

NM_000195.5

p.D326N

c.976G>A

1 paper

NM_000195.5

p.T322fs

c.964_965fs

3 papers

NM_000195.5

p.G321insFs

c.962dupG

1 paper

NM_000195.5

p.G321delFs

c.962delC

1 paper

NM_000195.5

p.G321D

c.962G>A

1 paper

NM_000195.5

p.Q329fs

c.985_986fs

1 paper

NM_000195.5

p.G321fs

c.961_962fs