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

2 papers

NM_024747.6

p.S663G

c.1987A>G

Surrounding Variants

1 paper

NM_024747.6

p.G660delFs

c.1978delG

4 papers

NM_024747.6

p.R667*

c.1999C>T

1 paper

NM_024747.6

p.R651W

c.1951C>T

2 papers

NM_024747.6

p.W649*

c.1947G>A

2 papers

NM_024747.6

p.W649*

c.1946G>A

1 paper

NM_024747.6

p.E677K

c.2029G>A

11 papers

NM_024747.6

p.Q680*

c.2038C>T

1 paper

NM_024747.6

p.H681H

c.2043C>T

1 paper

NM_024747.6

p.R682L

c.2045G>T

3 papers

NM_024747.6

p.V640delFs

c.1919_1920delTC

3 papers

NM_024747.6

p.V640fs

c.1918_1919fs

1 paper

NM_024747.6

p.A686delFs

c.2058delT