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.P541delFs

c.1622delC

Surrounding Variants

1 paper

NM_024747.6

p.P540R

c.1619C>G

1 paper

NM_024747.6

p.Q538fs

c.1612_1613fs

1 paper

NM_024747.6

p.D542delFs

c.1624delG

1 paper

NM_024747.6

p.D542fs

c.1624_1625fs

1 paper

NM_024747.6

p.S537insFs

c.1610dupC

1 paper

NM_024747.6

p.R536S

c.1608G>C

1 paper

NM_024747.6

p.R536S

c.1608G>T

1 paper

NM_024747.6

p.R536M

c.1607G>T

1 paper

NM_024747.6

p.V547delFs

c.1639_1640delGT

2 papers

NM_024747.6

p.V547G

c.1640T>G

1 paper

NM_024747.6

p.L548fs

c.1642_1643fs

2 papers

NM_024747.6

p.L548delFs

c.1644delA