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

2 papers

NM_032383.5

p.G739R

c.2215G>C

Surrounding Variants

2 papers

NM_032383.5

p.G739R

c.2215G>A

1 paper

NM_032383.5

p.P738T

c.2212C>A

1 paper

NM_032383.5

p.L740S

c.2219T>C

1 paper

NM_032383.5

p.Q737R

c.2210A>G

1 paper

NM_032383.5

p.Q737delFs

c.2211delG

1 paper

NM_032383.5

p.L741F

c.2221C>T

4 papers

NM_032383.5

p.Q737fs

c.2209_2210fs

5 papers

NM_032383.5

p.T736_Q737delFs

c.2208_2209delTC

1 paper

NM_032383.5

p.A743V

c.2228C>T

1 paper

NM_032383.5

p.S744S

c.2232A>G

1 paper

NM_032383.5

p.A730G

c.2189C>G

1 paper

NM_032383.5

p.L729fs

c.2185_2186fs