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.Q540*

c.1618C>T

Surrounding Variants

3 papers

NM_181507.2

p.S545Splc

c.1634+1G>A

1 paper

NM_181507.2

p.R531C

c.1591C>T

1 paper

NM_181507.2

p.F521fs

c.1561_1562fs

1 paper

NM_181507.2

p.D504fs

c.1510_1511fs

1 paper

NM_181507.2

p.D504G

c.1511A>G

2 papers

NM_181507.2

p.E503*

c.1507G>T

1 paper

NM_181507.2

p.G501R

c.1501G>C

1 paper

NM_181507.2

p.G501R

c.1501G>A

5 papers

NM_181507.2

p.L475delFs

c.1423delG

NM_007216.4

p.L361delFs

c.1081delG

3 papers

NM_181507.2

p.L475fs

c.1423_1424fs

5 papers

NM_181507.2

p.Q473*

c.1417C>T

1 paper

NM_181507.2

p.H471Y

c.1411C>T