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.V34V

c.102C>T

Surrounding Variants

1 paper

NM_024747.6

p.S37fs

c.109_110fs

1 paper

NM_024747.6

p.S37N

c.110G>A

1 paper

NM_024747.6

p.S37I

c.110G>T

1 paper

NM_024747.6

p.G40A

c.119G>C

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.L44M

c.130C>A

1 paper

NM_024747.6

p.R47*

c.139C>T

6 papers

NM_024747.6

p.L22fs

c.64_65fs

3 papers

NM_024747.6

p.R47_P48Fs

c.141_143delinsGFs

3 papers

NM_024747.6

p.R21insFs

c.62_63ins5

1 paper

NM_024747.6

p.P49_G50ins5

c.145_149ins15