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

1 paper

NM_032383.5

p.P726_T727delFs

c.2177_2181del5

Surrounding Variants

1 paper

NM_032383.5

p.P726_T727ins11

c.2176_2180ins33

1 paper

NM_032383.5

p.E728K

c.2182G>A

1 paper

NM_032383.5

p.E728_L729insA

c.2182_2186ins3

1 paper

NM_032383.5

p.L729fs

c.2185_2186fs

1 paper

NM_032383.5

p.A730G

c.2189C>G

1 paper

NM_032383.5

p.Q718fs

c.2152_2153fs

1 paper

NM_032383.5

p.Q718delFs

c.2153delA

1 paper

NM_032383.5

p.I717N

c.2150T>A

5 papers

NM_032383.5

p.T736_Q737delFs

c.2208_2209delTC

4 papers

NM_032383.5

p.Q737fs

c.2209_2210fs

1 paper

NM_032383.5

p.R714L

c.2141G>T

1 paper

NM_032383.5

p.Q737R

c.2210A>G