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

10 papers

NM_181507.2

p.L624R

c.1871T>G

Surrounding Variants

1 paper

NM_181507.2

p.F631S

c.1892T>C

1 paper

NM_181507.2

p.E632*

c.1894G>T

1 paper

NM_181507.2

p.E634*

c.1900G>T

4 papers

NM_181507.2

p.E634fs

c.1900_1901fs

4 papers

NM_181507.2

p.E634delFs

c.1900delC

1 paper

NM_181507.2

p.H646_L647del2

c.1936_1940del6

3 papers

NM_181507.2

p.K654*

c.1960A>T

1 paper

NM_181507.2

p.K654N

c.1962G>T

1 paper

NM_181507.2

p.K654N

c.1962G>C

1 paper

NM_181507.2

p.D672H

c.2014G>C

1 paper

NM_181507.2

p.L674V

c.2020C>G

3 papers

NM_181507.2

p.V676fs

c.2026_2027fs