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.K29insFs

c.87dupG

Surrounding Variants

1 paper

NM_000195.5

p.F30V

c.88T>G

1 paper

NM_000195.5

p.F30delFs

c.89_90delGA

2 papers

NM_000195.5

p.R27delFs

c.81delC

2 papers

NM_000195.5

p.S33fs

c.97_98fs

4 papers

NM_000195.5

p.S33_E34delFs

c.97_100del4

1 paper

NM_000195.5

p.E24*

c.70G>T

1 paper

NM_000195.5

p.F22insFs

c.64_65ins5

2 papers

NM_000195.5

p.F30_E38delFs

c.89_114del26

1 paper

NM_000195.5

p.D19insFs

c.57dupT

1 paper

NM_000195.5

p.D19delFs

c.57delA

1 paper

NM_000195.5

p.E39_L40Splc

c.117+2T>C

1 paper

NM_000195.5

p.E39_L40Splc

c.117+10G>A