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.Q502*

c.1504C>T

Surrounding Variants

1 paper

NM_024747.6

p.L503_A504del2

c.1507_1511del6

4 papers

NM_024747.6

p.Q505*

c.1513C>T

1 paper

NM_024747.6

p.V509F

c.1525G>T

1 paper

NM_024747.6

p.A491V

c.1472C>T

2 papers

NM_024747.6

p.A486V

c.1457C>T

1 paper

NM_024747.6

p.G519delFs

c.1556delG

1 paper

NM_024747.6

p.T483N

c.1448C>A

1 paper

NM_024747.6

p.T521delFs

c.1562_1563delCC

1 paper

NM_024747.6

p.Q528H

c.1584G>C

1 paper

NM_024747.6

p.Q528H

c.1584G>T

1 paper

NM_024747.6

p.A470D

c.1409C>A

1 paper

NM_024747.6

p.R536M

c.1607G>T