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

5 papers

NM_024747.6

p.R607*

c.1819C>T

Surrounding Variants

1 paper

NM_024747.6

p.R607Q

c.1820G>A

1 paper

NM_024747.6

p.R606S

c.1816C>A

1 paper

NM_024747.6

p.L604V

c.1810C>G

1 paper

NM_024747.6

p.G598R

c.1792G>A

1 paper

NM_024747.6

p.G598R

c.1792G>C

1 paper

NM_024747.6

p.A597T

c.1789G>A

3 papers

NM_024747.6

p.W595G

c.1783T>G

1 paper

NM_024747.6

p.A597delFs

c.1789delG

1 paper

NM_024747.6

p.P593P

c.1779G>A

2 papers

NM_024747.6

p.P593R

c.1778C>G

1 paper

NM_024747.6

p.P593L

c.1778C>T

1 paper

NM_024747.6

p.L622fs

c.1864_1865fs