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.P397S

c.1189C>T

Surrounding Variants

1 paper

NM_024747.6

p.P397delFs

c.1189delC

1 paper

NM_024747.6

p.E395D

c.1185G>C

1 paper

NM_024747.6

p.E395D

c.1185G>T

1 paper

NM_024747.6

p.L402L

c.1204C>T

1 paper

NM_024747.6

p.E405Q

c.1213G>C

2 papers

NM_024747.6

p.E406G

c.1217A>G

6 papers

NM_024747.6

p.Y410_G418delFs

c.1228_1252del25

1 paper

NM_024747.6

p.C385Y

c.1154G>A

2 papers

NM_024747.6

p.Y410fs

c.1228_1229fs

1 paper

NM_024747.6

p.L383L

c.1147C>T

3 papers

NM_024747.6

p.G382_L383delFs

c.1146_1147delTC

2 papers

NM_024747.6

p.Q412_R413insFs

c.1235_1239dup5