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

3 papers

NM_181507.2

p.V676_N677delFs

c.2026_2029del4

Surrounding Variants

3 papers

NM_181507.2

p.V676fs

c.2026_2027fs

3 papers

NM_181507.2

p.S679*

c.2036C>G

3 papers

NM_181507.2

p.S679*

c.2036C>A

1 paper

NM_181507.2

p.L674V

c.2020C>G

1 paper

NM_181507.2

p.G682V

c.2045G>T

1 paper

NM_181507.2

p.D672H

c.2014G>C

1 paper

NM_181507.2

p.E686_D687ins7

c.2056_2060ins21

1 paper

NM_181507.2

p.E686delFs

c.2058delT

1 paper

NM_181507.2

p.E691K

c.2071G>A

1 paper

NM_181507.2

p.S695F

c.2084C>T

1 paper

NM_181507.2

p.G697S

c.2089G>A

1 paper

NM_181507.2

p.K654N

c.1962G>T