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

1 paper

NM_022081.6

p.E302V

c.905A>T

Surrounding Variants

2 papers

NM_022081.6

p.G299D

c.896G>A

2 papers

NM_022081.6

p.D310insFs

c.929_930insC

1 paper

NM_022081.6

p.G287A

c.860G>C

1 paper

NM_022081.6

p.S280_A281delFs

c.838_842del5

1 paper

NM_022081.6

p.N325insFs

c.974_975insC

1 paper

NM_022081.6

p.D278E

c.834T>A

1 paper

NM_022081.6

p.G326R

c.976G>C

5 papers

NM_022081.6

p.R268K

c.803G>A

1 paper

NM_022081.6

p.S354T

c.1060T>A

1 paper

NM_022081.6

p.S354C

c.1061C>G

1 paper

NM_022081.6

p.V361A

c.1082T>C

1 paper

NM_022081.6

p.Q364*

c.1090C>T