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.Y711*

c.2133C>G

Surrounding Variants

1 paper

NM_024747.6

p.Y711*

c.2133C>A

1 paper

NM_024747.6

p.G726E

c.2177G>A

1 paper

NM_024747.6

p.E728A

c.2183A>C

1 paper

NM_024747.6

p.P730insFs

c.2189dupC

1 paper

NM_024747.6

p.P729R

c.2186C>G

1 paper

NM_024747.6

p.R693H

c.2078G>A

4 papers

NM_024747.6

p.R693C

c.2077C>T

1 paper

NM_024747.6

p.L731fs

c.2191_2192fs

1 paper

NM_024747.6

p.L690P

c.2069T>C

1 paper

NM_024747.6

p.H687Y

c.2059C>T

3 papers

NM_024747.6

p.L736P

c.2207T>C

1 paper

NM_024747.6

p.A686delFs

c.2058delT