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.A133V

c.398C>T

Surrounding Variants

2 papers

NM_024747.6

p.G136_G150delFs

c.407_449del43

3 papers

NM_024747.6

p.G136fs

c.406_407fs

3 papers

NM_024747.6

p.V128A

c.383T>C

1 paper

NM_024747.6

p.R127delFs

c.381delC

1 paper

NM_024747.6

p.R144W

c.430C>T

1 paper

NM_024747.6

p.R147G

c.439C>G

1 paper

NM_024747.6

p.E119D

c.357G>C

1 paper

NM_024747.6

p.E119D

c.357G>T

4 papers

NM_024747.6

p.E149K

c.445G>A

1 paper

NM_024747.6

p.G150fs

c.448_449fs

1 paper

NM_024747.6

p.Q116R

c.347A>G

2 papers

NM_024747.6

p.Q116*

c.346C>T