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.I84V

c.250A>G

Surrounding Variants

1 paper

NM_022081.6

p.K79E

c.235A>G

1 paper

NM_022081.6

p.R78I

c.233G>T

6 papers

NM_022081.6

p.L91P

c.272T>C

3 papers

NM_022081.6

p.W92_V93Splc

c.276+5G>A

1 paper

NM_022081.6

p.P71S

c.211C>T

1 paper

NM_022081.6

p.V60L

c.178G>C

4 papers

NM_022081.6

p.Q50*

c.148C>T

2 papers

NM_022081.6

p.Y41*

c.123T>G

3 papers

NM_022081.6

p.Y41*

c.123T>A

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