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.Q75*

c.223C>T

Surrounding Variants

1 paper

NM_024747.6

p.G74A

c.221G>C

1 paper

NM_024747.6

p.P76P

c.228C>G

1 paper

NM_024747.6

p.P78S

c.232C>T

2 papers

NM_024747.6

p.P78R

c.233C>G

1 paper

NM_024747.6

p.W71fs

c.211_212fs

2 papers

NM_024747.6

p.W71fs

c.211_212fs

4 papers

NM_024747.6

p.D80insFs

c.238dupG

2 papers

NM_024747.6

p.D80fs

c.238_239fs

1 paper

NM_024747.6

p.A81S

c.241G>T

2 papers

NM_024747.6

p.R69_A70insFs

c.206_210dup5

1 paper

NM_024747.6

p.W86_A88ins1

c.256_264dup9

2 papers

NM_024747.6

p.P85L

c.254C>T