Varaico: Literature-Extracted Genetic Variants

HPS3

167 papers

RefSeq Summary

This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded p...

Pfam Domains

HPS3_Naa 3–75UCSCHermansky-Pudlak syndrome 3 protein, N-terminal

HPS3_Naa 3–480UCSCHermansky-Pudlak syndrome 3 protein, N-terminal

HPS3_Caa 498–1001UCSCHermansky-Pudlak syndrome 3 protein, C-terminal region

Gene Aliases

HGNC Name

HPS3 biogenesis of lysosomal organelles complex 2 subunit 1

HGNC Alias Symbols

SUTAL; BLOC2S1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

14 papers

NM_032383.5

p.R397W

c.1189C>T

Surrounding Variants

2 papers

NM_032383.5

p.R397Q

c.1190G>A

1 paper

NM_032383.5

p.R397delFs

c.1189delC

2 papers

NM_032383.5

p.C398Y

c.1193G>A

1 paper

NM_032383.5

p.S399G

c.1195A>G

1 paper

NM_032383.5

p.S399Fs

c.1195_1196delinsGGTGCATFs

1 paper

NM_032383.5

p.S399fs

c.1195_1196fs

1 paper

NM_032383.5

p.A400insFs

c.1199_1200ins5

1 paper

NM_032383.5

p.A400V

c.1199C>T

1 paper

NM_032383.5

p.C393_F394insFs

c.1179_1180insC

1 paper

NM_032383.5

p.A401fs

c.1201_1202fs

1 paper

NM_032383.5

p.N389T

c.1166A>C

1 paper

NM_032383.5

p.M410V

c.1228A>G