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

5 papers

NM_032383.5

p.L558P

c.1673T>C

Surrounding Variants

1 paper

NM_032383.5

p.C561R

c.1681T>C

2 papers

NM_032383.5

p.R564Splc

c.1691+1G>A

2 papers

NM_032383.5

p.R564Splc

c.1691+2T>G

2 papers

NM_032383.5

p.K544fs

c.1630_1631fs

1 paper

NM_032383.5

p.E543D

c.1629G>C

1 paper

NM_032383.5

p.E543D

c.1629G>T

2 papers

NM_032383.5

p.K544delFs

c.1631delA

1 paper

NM_032383.5

p.E543K

c.1627G>A

1 paper

NM_032383.5

p.Q538H

c.1614G>C

1 paper

NM_032383.5

p.Q538H

c.1614G>T

1 paper

NM_032383.5

p.A536D

c.1607C>A

2 papers

NM_032383.5

p.L533fs

c.1597_1598fs