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.H350insFs

c.1049dupA

Surrounding Variants

1 paper

NM_032383.5

p.V361A

c.1082T>C

1 paper

NM_032383.5

p.E338Q

c.1012G>C

2 papers

NM_032383.5

p.E338*

c.1012G>T

1 paper

NM_032383.5

p.Q335*

c.1003C>T

2 papers

NM_032383.5

p.V366_Q368del0

c.1096_1104del9

2 papers

NM_032383.5

p.L333L

c.999G>A

2 papers

NM_032383.5

p.L333*

c.998T>A

1 paper

NM_032383.5

p.N332K

c.996T>A

1 paper

NM_032383.5

p.N332K

c.996T>G

1 paper

NM_032383.5

p.Y367*

c.1101C>A

2 papers

NM_032383.5

p.Y369C

c.1106A>G

2 papers

NM_032383.5

p.Y369_S373delins

c.1107_1119delinsC