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

1 paper

NM_024747.6

p.A157A

c.471C>A

Surrounding Variants

1 paper

NM_024747.6

p.A156_F159insFs

c.466_475dup10

4 papers

NM_024747.6

p.S152*

c.455C>A

4 papers

NM_024747.6

p.S152*

c.455C>G

1 paper

NM_024747.6

p.G150fs

c.448_449fs

4 papers

NM_024747.6

p.E149K

c.445G>A

3 papers

NM_024747.6

p.L168delFs

c.503_504delTG

3 papers

NM_024747.6

p.L168fs

c.502_503fs

1 paper

NM_024747.6

p.R147G

c.439C>G

1 paper

NM_024747.6

p.E169fs

c.505_506fs

1 paper

NM_024747.6

p.E169E

c.507G>A

1 paper

NM_024747.6

p.R144W

c.430C>T

1 paper

NM_024747.6

p.G172G

c.516G>A