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.S236fs

c.706_707fs

Surrounding Variants

1 paper

NM_024747.6

p.S236delFs

c.706_707delTC

4 papers

NM_024747.6

p.L233R

c.698T>G

1 paper

NM_024747.6

p.N242insFs

c.724_725dupAA

1 paper

NM_024747.6

p.P243S

c.727C>T

1 paper

NM_024747.6

p.P221A

c.661C>G

1 paper

NM_024747.6

p.R252Q

c.755G>A

2 papers

NM_024747.6

p.L255P

c.764T>C

1 paper

NM_024747.6

p.R256*

c.766C>T

5 papers

NM_024747.6

p.G260E

c.779G>A

3 papers

NM_024747.6

p.G211A

c.632G>C

2 papers

NM_024747.6

p.P264R

c.791C>G

1 paper

NM_024747.6

p.P264L

c.791C>T