Varaico: Literature-Extracted Genetic Variants

HPS4

136 papers

RefSeq Summary

This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosome...

Pfam Domains

Intu_longin_1aa 15–121UCSCFirst Longin domain of INTU, CCZ1 and HPS4

Intu_longin_3aa 598–699UCSCIntu longin-like domain 3

Gene Aliases

HGNC Name

HPS4 biogenesis of lysosomal organelles complex 3 subunit 2

HGNC Alias Symbols

KIAA1667; LE; BLOC3S2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 178 variants

11 papers

NM_022081.6

p.R217*

c.649C>T

9 papers

NM_022081.6

p.H154R

c.461A>G

6 papers

NM_022081.6

p.L91P

c.272T>C

6 papers

NM_022081.6

p.E138*

c.412G>T

6 papers

NM_022081.6

p.E222*

c.664G>T

6 papers

NM_022081.6

p.Q620*

c.1858C>T

5 papers

NM_022081.6

p.Q181*

c.541C>T

5 papers

NM_022081.6

p.R185H

c.554G>A

5 papers

NM_022081.6

p.R268K

c.803G>A

5 papers

NM_022081.6

p.L443V

c.1327C>G

5 papers

NM_022081.6

p.P619L

c.1856C>T

5 papers

NM_022081.6

p.Q631*

c.1891C>T