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.P257A

c.769C>G

Surrounding Variants

1 paper

NM_000195.5

p.P257S

c.769C>T

2 papers

NM_000195.5

p.P259L

c.776C>T

1 paper

NM_000195.5

p.R260W

c.778C>T

1 paper

NM_000195.5

p.R263W

c.787C>T

1 paper

NM_000195.5

p.P269_V270ins3

c.807_808ins9

1 paper

NM_000195.5

p.V270M

c.808G>A

1 paper

NM_000195.5

p.A273V

c.818C>T

1 paper

NM_000195.5

p.Q266_A273delFs

c.797_819del23

1 paper

NM_000195.5

p.S275_H277del0

c.825_830del6

1 paper

NM_000195.5

p.G280_P281insA

c.838_842ins3

17 papers

NM_000195.5

p.G283W

c.847G>T

2 papers

NM_000195.5

p.G283R

c.847G>C