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

11 papers

NM_000195.5

p.G313S

c.937G>A

Surrounding Variants

1 paper

NM_000195.5

p.T315N

c.944C>A

1 paper

NM_000195.5

p.I316T

c.947T>C

1 paper

NM_000195.5

p.L318V

c.952C>G

1 paper

NM_000195.5

p.L318Q

c.953T>A

2 papers

NM_000195.5

p.E319fs

c.955_956fs

2 papers

NM_000195.5

p.E319delFs

c.956delT

1 paper

NM_000195.5

p.G321fs

c.961_962fs

1 paper

NM_000195.5

p.G321D

c.962G>A

3 papers

NM_000195.5

p.G321insFs

c.962dupG

1 paper

NM_000195.5

p.G321delFs

c.962delC

1 paper

NM_000195.5

p.T322fs

c.964_965fs

17 papers

NM_000195.5

p.M325fs

c.973_974fs