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

1–12 of 289 variants

11 papers

NM_024747.6

p.Q680*

c.2038C>T

9 papers

NM_024747.6

p.L22insFs

c.64_65ins5

7 papers

NM_024747.6

p.T272I

c.815C>T

6 papers

NM_024747.6

p.L22fs

c.64_65fs

6 papers

NM_024747.6

p.R299W

c.895C>T

6 papers

NM_024747.6

p.Y410_G418delFs

c.1228_1252del25

6 papers

NM_024747.6

p.R463*

c.1387C>T

5 papers

NM_024747.6

p.Q75*

c.223C>T

5 papers

NM_024747.6

p.G260E

c.779G>A

5 papers

NM_024747.6

p.Q305*

c.913C>T

5 papers

NM_024747.6

p.C571_L572delFs

c.1713_1716del4

5 papers

NM_024747.6

p.R607*

c.1819C>T