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.G338S

c.1012G>A

Surrounding Variants

1 paper

NM_024747.6

p.G340V

c.1019G>T

1 paper

NM_024747.6

p.Q341*

c.1021C>T

1 paper

NM_024747.6

p.E344*

c.1030G>T

1 paper

NM_024747.6

p.S349G

c.1045A>G

1 paper

NM_024747.6

p.V327M

c.979G>A

1 paper

NM_024747.6

p.A325insFs

c.974_975insC

1 paper

NM_024747.6

p.R352fs

c.1054_1055fs

1 paper

NM_024747.6

p.R352S

c.1056G>C

1 paper

NM_024747.6

p.R352S

c.1056G>T

1 paper

NM_024747.6

p.H354Y

c.1060C>T

3 papers

NM_024747.6

p.L355_L356insFs

c.1065_1066insG

2 papers

NM_024747.6

p.L356insFs

c.1066_1067insG