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

4 papers

NM_181507.2

p.S95Splc

c.285-10A>G

Surrounding Variants

1 paper

NM_181507.2

p.S95_Q96insFs

c.285_286dupTC

1 paper

NM_181507.2

p.G97V

c.290G>T

3 papers

NM_181507.2

p.V101fs

c.301_302fs

1 paper

NM_181507.2

p.V101G

c.302T>G

1 paper

NM_181507.2

p.V100_W102Fs

c.300_304delinsGFs

4 papers

NM_181507.2

p.V101_W102delFs

c.302_305del4

2 papers

NM_181507.2

p.R108C

c.322C>T

1 paper

NM_181507.2

p.R109C

c.325C>T

1 paper

NM_181507.2

p.R109S

c.325C>A

1 paper

NM_181507.2

p.G110R

c.328G>C

1 paper

NM_181507.2

p.G110R

c.328G>A

1 paper

NM_181507.2

p.P112L

c.335C>T