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

4 papers

NM_024747.6

p.P275S

c.823C>T

Surrounding Variants

1 paper

NM_024747.6

p.T272_W273delins

c.816_818delinsGGT

7 papers

NM_024747.6

p.T272I

c.815C>T

3 papers

NM_024747.6

p.Q278*

c.832C>T

2 papers

NM_024747.6

p.P264R

c.791C>G

1 paper

NM_024747.6

p.P264L

c.791C>T

1 paper

NM_024747.6

p.G286delFs

c.856delG

5 papers

NM_024747.6

p.G260E

c.779G>A

1 paper

NM_024747.6

p.S290R

c.868A>C

1 paper

NM_024747.6

p.S290R

c.870C>A

1 paper

NM_024747.6

p.S290R

c.870C>G

2 papers

NM_024747.6

p.Q293*

c.877C>T

1 paper

NM_024747.6

p.R256*

c.766C>T