Varaico: Literature-Extracted Genetic Variants

HPS6

148 papers

RefSeq Summary

This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak sy...

Pfam Domains

HPS6aa 1–386UCSCHermansky-Pudlak syndrome 6 protein N-terminal domain

HPS6_Caa 401–773UCSCHermansky-Pudlak syndrome 6 protein C-terminal domain

Gene Aliases

HGNC Name

HPS6 biogenesis of lysosomal organelles complex 2 subunit 3

HGNC Alias Symbols

FLJ22501; BLOC2S3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_024747.6

p.C571insFs

c.1711_1712insAG

Surrounding Variants

5 papers

NM_024747.6

p.C571_L572delFs

c.1713_1716del4

3 papers

NM_024747.6

p.C571*

c.1713T>A

1 paper

NM_024747.6

p.C571_L572insFs

c.1713_1714insAG

1 paper

NM_024747.6

p.L572fs

c.1714_1715fs

3 papers

NM_024747.6

p.L572fs

c.1714_1715fs

1 paper

NM_024747.6

p.L575Q

c.1724T>A

1 paper

NM_024747.6

p.L575R

c.1724T>G

1 paper

NM_024747.6

p.P577S

c.1729C>T

1 paper

NM_024747.6

p.F565V

c.1693T>G

1 paper

NM_024747.6

p.F565fs

c.1693_1694fs

2 papers

NM_024747.6

p.R578*

c.1732C>T

1 paper

NM_024747.6

p.W579*

c.1736G>A