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

10 papers

NM_032383.5

p.R822*

c.2464C>T

Surrounding Variants

1 paper

NM_032383.5

p.S824*

c.2471C>A

1 paper

NM_032383.5

p.S824L

c.2471C>T

1 paper

NM_032383.5

p.E825*

c.2473G>T

1 paper

NM_032383.5

p.P816L

c.2447C>T

1 paper

NM_032383.5

p.F799fs

c.2395_2396fs

1 paper

NM_032383.5

p.F799delFs

c.2395delT

1 paper

NM_032383.5

p.L795F

c.2383C>T

1 paper

NM_032383.5

p.Q776*

c.2326C>T

1 paper

NM_032383.5

p.A768T

c.2302G>A

1 paper

NM_032383.5

p.V765L

c.2293G>C

1 paper

NM_032383.5

p.V765L

c.2293G>T

1 paper

NM_032383.5

p.G755V

c.2264G>T