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

1 paper

NM_000195.5

p.Y110fs

c.328_329fs

Surrounding Variants

1 paper

NM_000195.5

p.Y110insFs

c.328dupT

1 paper

NM_000195.5

p.Y110delFs

c.328delA

1 paper

NM_000195.5

p.V111M

c.331G>A

1 paper

NM_000195.5

p.R107L

c.320G>T

1 paper

NM_000195.5

p.R107delins

c.319_320delinsAT

1 paper

NM_000195.5

p.R107W

c.319C>T

1 paper

NM_000195.5

p.R106Q

c.317G>A

1 paper

NM_000195.5

p.R106W

c.316C>T

3 papers

NM_000195.5

p.R106G

c.316C>G

3 papers

NM_000195.5

p.L115P

c.344T>C

1 paper

NM_000195.5

p.L115delFs

c.345delC

2 papers

NM_000195.5

p.G103E

c.308G>A