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.S379*

c.1136C>A

Surrounding Variants

1 paper

NM_024747.6

p.S379*

c.1136C>G

1 paper

NM_024747.6

p.L378R

c.1133T>G

1 paper

NM_024747.6

p.L377P

c.1130T>C

3 papers

NM_024747.6

p.G382_L383delFs

c.1146_1147delTC

1 paper

NM_024747.6

p.L383L

c.1147C>T

1 paper

NM_024747.6

p.C385Y

c.1154G>A

3 papers

NM_024747.6

p.R372*

c.1114C>T

1 paper

NM_024747.6

p.E366D

c.1098G>C

1 paper

NM_024747.6

p.E366D

c.1098G>T

2 papers

NM_024747.6

p.E366_E368del0

c.1096_1104del9

1 paper

NM_024747.6

p.E395D

c.1185G>C

1 paper

NM_024747.6

p.E395D

c.1185G>T