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.L622fs

c.1864_1865fs

Surrounding Variants

4 papers

NM_024747.6

p.L622delFs

c.1865_1866delTG

1 paper

NM_024747.6

p.L622fs

c.1864_1865fs

2 papers

NM_024747.6

p.L624R

c.1871T>G

4 papers

NM_024747.6

p.P633delFs

c.1898delC

1 paper

NM_024747.6

p.P633fs

c.1897_1898fs

2 papers

NM_024747.6

p.P633fs

c.1897_1898fs

1 paper

NM_024747.6

p.R607Q

c.1820G>A

5 papers

NM_024747.6

p.R607*

c.1819C>T

1 paper

NM_024747.6

p.R606S

c.1816C>A

1 paper

NM_024747.6

p.L604V

c.1810C>G

3 papers

NM_024747.6

p.V640delFs

c.1919_1920delTC

3 papers

NM_024747.6

p.V640fs

c.1918_1919fs