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

1–12 of 456 variants

26 papers

NM_000195.5

p.E133Splc

c.398+5G>A

26 papers

NM_000195.5

p.P324insFs

c.972dupC

17 papers

NM_000195.5

p.G283W

c.847G>T

17 papers

NM_000195.5

p.M325fs

c.973_974fs

15 papers

NM_000195.5

p.Q397delFs

c.1189delG

14 papers

NM_000195.5

p.P324delFs

c.972delG

14 papers

NM_000195.5

p.L668P

c.2003T>C

11 papers

NM_000195.5

p.L239P

c.716T>C

11 papers

NM_000195.5

p.G313S

c.937G>A

11 papers

NM_000195.5

p.P491R

c.1472C>G

10 papers

NM_000195.5

p.V4A

c.11T>C

10 papers

NM_000195.5

p.D644delFs

c.1932delG