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

1–12 of 345 variants

14 papers

NM_032383.5

p.R397W

c.1189C>T

12 papers

NM_032383.5

p.S388Splc

c.1163+1G>A

12 papers

NM_032383.5

p.S613*

c.1838C>G

10 papers

NM_032383.5

p.S613*

c.1838C>A

10 papers

NM_032383.5

p.R822*

c.2464C>T

6 papers

NM_032383.5

p.Y5*

c.15C>G

6 papers

NM_032383.5

p.H842H

c.2526C>T

5 papers

NM_032383.5

p.Y5*

c.15C>A

5 papers

NM_032383.5

p.L558P

c.1673T>C

5 papers

NM_032383.5

p.E624*

c.1870G>T

5 papers

NM_032383.5

p.T736_Q737delFs

c.2208_2209delTC

4 papers

NM_032383.5

p.M503I

c.1509G>A