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

1–12 of 226 variants

10 papers

NM_181507.2

p.L624R

c.1871T>G

9 papers

NM_181507.2

p.T1098I

c.3293C>T

8 papers

NM_181507.2

p.R865*

c.2593C>T

5 papers

NM_181507.2

p.R73R

c.219G>A

5 papers

NM_181507.2

p.Q473*

c.1417C>T

5 papers

NM_181507.2

p.L475delFs

c.1423delG

5 papers

NM_181507.2

p.Q540*

c.1618C>T

5 papers

NM_181507.2

p.L740S

c.2219T>C

5 papers

NM_181507.2

p.L1032_L1033del1

c.3096_3098delAGG

5 papers

NM_181507.2

p.L1033del1

c.3097_3098delAAG

4 papers

NM_181507.2

p.S95Splc

c.285-10A>G

4 papers

NM_181507.2

p.V101_W102delFs

c.302_305del4