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.T591S

c.1771A>T

Surrounding Variants

1 paper

NM_032383.5

p.T591M

c.1772C>T

1 paper

NM_032383.5

p.R590H

c.1769G>A

1 paper

NM_032383.5

p.A589V

c.1766C>T

1 paper

NM_032383.5

p.R590delFs

c.1768delC

1 paper

NM_032383.5

p.E596Q

c.1786G>C

1 paper

NM_032383.5

p.H571Y

c.1711C>T

1 paper

NM_032383.5

p.H612D

c.1834C>G

10 papers

NM_032383.5

p.S613*

c.1838C>A

12 papers

NM_032383.5

p.S613*

c.1838C>G

1 paper

NM_032383.5

p.E616K

c.1846G>A

1 paper

NM_032383.5

p.N623_E624delFs

c.1868_1872del5

1 paper

NM_032383.5

p.N623fs

c.1867_1868fs