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

3 papers

NM_022081.6

p.Y41*

c.123T>A

Surrounding Variants

2 papers

NM_022081.6

p.Y41*

c.123T>G

1 paper

NM_022081.6

p.G30_C38delFs

c.89_114del26

1 paper

NM_022081.6

p.A35_G36delins

c.104_106delinsGAC

1 paper

NM_022081.6

p.D22Y

c.64G>T

1 paper

NM_022081.6

p.Y21delFs

c.61delA

1 paper

NM_022081.6

p.Y21fs

c.61_62fs

3 papers

NM_022081.6

p.L20fs

c.58_59fs

1 paper

NM_022081.6

p.F19insFs

c.57dupT

2 papers

NM_022081.6

p.F19delFs

c.57delA

3 papers

NM_022081.6

p.N16delFs

c.47delT

1 paper

NM_022081.6

p.N16I

c.47A>T

2 papers

NM_022081.6

p.N16fs

c.46_47fs