Varaico: Literature-Extracted Genetic Variants

HPS5

128 papers

RefSeq Summary

This 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 syndrome 6 pr...

Pfam Domains

Beta-prop_HPS5aa 15–346UCSCHPS5 beta-propeller

TPR_HPS5aa 721–1100UCSCHPS5 TPR domain

Gene Aliases

HGNC Name

HPS5 biogenesis of lysosomal organelles complex 2 subunit 2

HGNC Alias Symbols

BLOC2S2; AIBP63; RU2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_181507.2

p.K791R

c.2372A>G

Surrounding Variants

1 paper

NM_007216.4

p.A676_K677delFs

c.2026_2029del4

1 paper

NM_181507.2

p.Y798*

c.2394C>G

1 paper

NM_181507.2

p.Y798insFs

c.2393dupA

1 paper

NM_181507.2

p.Y798*

c.2394C>A

1 paper

NM_181507.2

p.L773M

c.2317C>A

1 paper

NM_181507.2

p.E771K

c.2311G>A

1 paper

NM_181507.2

p.G759*

c.2275G>T

1 paper

NM_181507.2

p.L745S

c.2234T>C

5 papers

NM_181507.2

p.L740S

c.2219T>C

1 paper

NM_181507.2

p.A728delFs

c.2184delG

1 paper

NM_181507.2

p.C727R

c.2179T>C

1 paper

NM_181507.2

p.G697_E699del3

c.2089_2096del9