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.G330*

c.988G>T

Surrounding Variants

1 paper

NM_032383.5

p.T327T

c.981A>G

1 paper

NM_032383.5

p.N332K

c.996T>A

1 paper

NM_032383.5

p.N332K

c.996T>G

2 papers

NM_032383.5

p.L333*

c.998T>A

2 papers

NM_032383.5

p.L333L

c.999G>A

1 paper

NM_032383.5

p.Q335*

c.1003C>T

1 paper

NM_032383.5

p.S325insFs

c.974_975insC

1 paper

NM_032383.5

p.S325ins3

c.973_974ins9

1 paper

NM_032383.5

p.G324Splc

c.971-1G>T

1 paper

NM_032383.5

p.G324Splc

c.971-3C>T

1 paper

NM_032383.5

p.E338Q

c.1012G>C

2 papers

NM_032383.5

p.E338*

c.1012G>T