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

Selected Variant

9 papers

NM_022081.6

p.H154R

c.461A>G

Surrounding Variants

1 paper

NM_022081.6

p.H154P

c.461A>C

1 paper

NM_022081.6

p.I146N

c.437T>A

4 papers

NM_022081.6

p.E144*

c.430G>T

1 paper

NM_022081.6

p.E144K

c.430G>A

1 paper

NM_022081.6

p.Q165*

c.493C>T

1 paper

NM_022081.6

p.N129_F142del14

c.385_425del42

2 papers

NM_022081.6

p.W139*

c.417G>A

3 papers

NM_022081.6

p.W139*

c.416G>A

6 papers

NM_022081.6

p.E138*

c.412G>T

1 paper

NM_022081.6

p.E133*

c.397G>T

1 paper

NM_022081.6

p.E128_N129Splc

c.384+1G>A

2 papers

NM_022081.6

p.Y119*

c.357C>G