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.S411S

c.1233C>T

Surrounding Variants

1 paper

NM_022081.6

p.S407R

c.1221C>G

1 paper

NM_022081.6

p.S407R

c.1221C>A

1 paper

NM_022081.6

p.S407R

c.1219A>C

1 paper

NM_022081.6

p.C402Y

c.1205G>A

1 paper

NM_022081.6

p.R426H

c.1277G>A

1 paper

NM_022081.6

p.P393_V394insFs

c.1179_1180insC

1 paper

NM_022081.6

p.A430T

c.1288G>A

1 paper

NM_022081.6

p.P431delFs

c.1291delG

3 papers

NM_022081.6

p.Q440*

c.1318C>T

1 paper

NM_022081.6

p.E441_Q442insFs

c.1323_1324insA

1 paper

NM_022081.6

p.E381delFs

c.1141delC

1 paper

NM_022081.6

p.E381fs

c.1141_1142fs