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

9 papers

NM_024747.6

p.L22insFs

c.64_65ins5

Surrounding Variants

1 paper

NM_024747.6

p.A20_D29del10

c.58_86del30

1 paper

NM_024747.6

p.S14insFs

c.41dupG

3 papers

NM_024747.6

p.R21insFs

c.62_63ins5

6 papers

NM_024747.6

p.L22fs

c.64_65fs

1 paper

NM_024747.6

p.L7fs

c.19_20fs

1 paper

NM_024747.6

p.L7fs

c.19_20fs

1 paper

NM_024747.6

p.L7_L10delFs

c.20_29del10

3 papers

NM_024747.6

p.L7delFs

c.19_20delCT

1 paper

NM_024747.6

p.G28R

c.82G>A

1 paper

NM_024747.6

p.G28R

c.82G>C

1 paper

NM_024747.6

p.S4L

c.11C>T

1 paper

NM_024747.6

p.R3G

c.7C>G