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

3 papers

NM_000195.5

p.E133*

c.397G>T

Surrounding Variants

1 paper

NM_000195.5

p.K132N

c.396G>T

1 paper

NM_000195.5

p.E133Splc

c.398+2T>C

1 paper

NM_000195.5

p.R131Q

c.392G>A

26 papers

NM_000195.5

p.E133Splc

c.398+5G>A

7 papers

NM_000195.5

p.R131*

c.391C>T

1 paper

NM_000195.5

p.D126delFs

c.377_378delGT

1 paper

NM_000195.5

p.V125M

c.373G>A

1 paper

NM_000195.5

p.F120Y

c.359T>A

1 paper

NM_000195.5

p.H119Q

c.357C>G

2 papers

NM_000195.5

p.H119delFs

c.355delG

1 paper

NM_000195.5

p.H119fs

c.355_356fs

1 paper

NM_000195.5

p.L115delFs

c.345delC