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.R299fs

c.895_896fs

Surrounding Variants

6 papers

NM_024747.6

p.R299W

c.895C>T

2 papers

NM_024747.6

p.R299Q

c.896G>A

4 papers

NM_024747.6

p.R299P

c.896G>C

1 paper

NM_024747.6

p.T298insFs

c.894dupG

1 paper

NM_024747.6

p.T298A

c.892A>G

1 paper

NM_024747.6

p.A300S

c.898G>T

3 papers

NM_024747.6

p.V301insFs

c.902dupT

3 papers

NM_024747.6

p.G302D

c.905G>A

2 papers

NM_024747.6

p.T303fs

c.907_908fs

5 papers

NM_024747.6

p.Q305*

c.913C>T

2 papers

NM_024747.6

p.Q293*

c.877C>T

1 paper

NM_024747.6

p.S290R

c.870C>A