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

10 papers

NM_000195.5

p.V4A

c.11T>C

Surrounding Variants

3 papers

NM_000195.5

p.C3delFs

c.9delG

1 paper

NM_000195.5

p.V4V

c.12C>T

1 paper

NM_000195.5

p.L5fs

c.13_14fs

3 papers

NM_000195.5

p.C3*

c.9C>A

1 paper

NM_000195.5

p.C3S

c.7T>A

2 papers

NM_000195.5

p.C3fs

c.7_8fs

2 papers

NM_000195.5

p.V6fs

c.16_17fs

2 papers

NM_000195.5

p.V6insFs

c.16dupG

1 paper

NM_000195.5

p.M1I

c.3G>T

1 paper

NM_000195.5

p.M1I

c.3G>C

1 paper

NM_000195.5

p.M1I

c.3G>A

1 paper

NM_000195.5

p.M1R

c.2T>G