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.P531S

c.1591C>T

Surrounding Variants

1 paper

NM_022081.6

p.S527F

c.1580C>T

1 paper

NM_022081.6

p.D523N

c.1567G>A

1 paper

NM_022081.6

p.Y544delFs

c.1631delT

3 papers

NM_022081.6

p.Q516delFs

c.1547_1548delCT

3 papers

NM_022081.6

p.Q516fs

c.1546_1547fs

3 papers

NM_022081.6

p.Q516*

c.1546C>T

1 paper

NM_022081.6

p.H546R

c.1637A>G

1 paper

NM_022081.6

p.C547G

c.1639T>G

3 papers

NM_022081.6

p.V552M

c.1654G>A

1 paper

NM_022081.6

p.D564delFs

c.1691delT

3 papers

NM_022081.6

p.V571_Y572Splc

c.1713+5G>C

1 paper

NM_022081.6

p.Q488*

c.1462C>T