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_152841.2

p.P202P

c.606C>T

Surrounding Variants

1 paper

NM_022081.6

p.P206P

c.618G>A

3 papers

NM_022081.6

p.T210insFs

c.630dupC

1 paper

NM_022081.6

p.A211T

c.631G>A

2 papers

NM_022081.6

p.A211fs

c.631_632fs

1 paper

NM_022081.6

p.A211fs

c.631_632fs

1 paper

NM_022081.6

p.S202S

c.606C>T

1 paper

NM_022081.6

p.I200T

c.599T>C

3 papers

NM_022081.6

p.L199Splc

c.597-2A>T

11 papers

NM_022081.6

p.R217*

c.649C>T

6 papers

NM_022081.6

p.E222*

c.664G>T

1 paper

NM_022081.6

p.Q223*

c.667C>T

1 paper

NM_022081.6

p.Q223_R224Splc

c.669+1G>T