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.L239P

c.716T>C

Surrounding Variants

1 paper

NM_000195.5

p.L240V

c.718C>G

1 paper

NM_000195.5

p.Q242*

c.724C>T

1 paper

NM_000195.5

p.Q242_D243insFs

c.726_727ins11

1 paper

NM_000195.5

p.Q242insFs

c.724_725dupCA

1 paper

NM_000195.5

p.Q242Q

c.726G>A

1 paper

NM_000195.5

p.L244F

c.730C>T

1 paper

NM_000195.5

p.Y245*

c.735C>G

1 paper

NM_000195.5

p.Y245*

c.735C>A

4 papers

NM_000195.5

p.A232V

c.695C>T

1 paper

NM_000195.5

p.A232_D233insGGG

c.694_698ins9

1 paper

NM_000195.5

p.P231L

c.692C>T

2 papers

NM_000195.5

p.P231S

c.691C>T