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.V93L

c.277G>T

Surrounding Variants

2 papers

NM_024747.6

p.V93L

c.277G>C

3 papers

NM_024747.6

p.L92Q

c.275T>A

1 paper

NM_024747.6

p.V95delFs

c.283delG

1 paper

NM_024747.6

p.V95fs

c.283_284fs

4 papers

NM_024747.6

p.W96*

c.287G>A

4 papers

NM_024747.6

p.W96*

c.288G>A

1 paper

NM_024747.6

p.G99D

c.296G>A

1 paper

NM_024747.6

p.G99G

c.297C>T

1 paper

NM_024747.6

p.W86*

c.257G>A

2 papers

NM_024747.6

p.P85L

c.254C>T

1 paper

NM_024747.6

p.W86_A88ins1

c.256_264dup9

1 paper

NM_024747.6

p.E102K

c.304G>A