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.Y489H

c.1465T>C

Surrounding Variants

1 paper

NM_032383.5

p.Y489insFs

c.1467dupT

1 paper

NM_032383.5

p.T493M

c.1478C>T

1 paper

NM_032383.5

p.T493T

c.1479G>A

1 paper

NM_032383.5

p.V481I

c.1441G>A

1 paper

NM_032383.5

p.P480T

c.1438C>A

3 papers

NM_032383.5

p.Q498Q

c.1494G>A

2 papers

NM_032383.5

p.I476fs

c.1426_1427fs

3 papers

NM_032383.5

p.I476insFs

c.1426dupA

4 papers

NM_032383.5

p.M503I

c.1509G>A

4 papers

NM_032383.5

p.M503I

c.1509G>C

4 papers

NM_032383.5

p.M503I

c.1509G>T

3 papers

NM_032383.5

p.S468L

c.1403C>T