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

2 papers

NM_007216.4

p.P475delFs

c.1423delG

Surrounding Variants

1 paper

NM_181507.2

p.K590M

c.1769A>T

1 paper

NM_181507.2

p.S585A

c.1753T>G

1 paper

NM_181507.2

p.C579F

c.1736G>T

1 paper

NM_181507.2

p.C579Y

c.1736G>A

1 paper

NM_181507.2

p.D575G

c.1724A>G

1 paper

NM_181507.2

p.T562M

c.1685C>T

3 papers

NM_181507.2

p.S545Splc

c.1634+1G>A

5 papers

NM_181507.2

p.Q540*

c.1618C>T

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