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

5 papers

NM_181507.2

p.L1033del1

c.3097_3098delAAG

Surrounding Variants

5 papers

NM_181507.2

p.L1032_L1033del1

c.3096_3098delAGG

2 papers

NM_181507.2

p.L1033F

c.3097C>T

1 paper

NM_007216.4

p.E976_L977insFs

c.2928_2929dupGT

9 papers

NM_181507.2

p.T1098I

c.3293C>T

1 paper

NM_181507.2

p.T1098T

c.3294C>T

2 papers

NM_181507.2

p.T1096_I1104del9

c.3286_3311del27

3 papers

NM_181507.2

p.G1020Splc

c.3058+3A>G

1 paper

NM_181507.2

p.E1016K

c.3046G>A

3 papers

NM_181507.2

p.M1015I

c.3045G>T

3 papers

NM_181507.2

p.M1015I

c.3045G>C

3 papers

NM_181507.2

p.M1015I

c.3045G>A

1 paper

NM_181507.2

p.M1012V

c.3034A>G