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.V633fs

c.1897_1898fs

Surrounding Variants

1 paper

NM_022081.6

p.A632_V633insFs

c.1896_1897dupCG

1 paper

NM_022081.6

p.S634fs

c.1900_1901fs

5 papers

NM_022081.6

p.Q631*

c.1891C>T

3 papers

NM_022081.6

p.Q625H

c.1875G>T

3 papers

NM_022081.6

p.Q625H

c.1875G>C

1 paper

NM_022081.6

p.Q642E

c.1924C>G

6 papers

NM_022081.6

p.Q620*

c.1858C>T

5 papers

NM_022081.6

p.P619L

c.1856C>T

1 paper

NM_022081.6

p.N617K

c.1851C>G

1 paper

NM_022081.6

p.N617K

c.1851C>A

1 paper

NM_022081.6

p.M649I

c.1947G>T

1 paper

NM_022081.6

p.M649I

c.1947G>C