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.Q53R

c.158A>G

Surrounding Variants

1 paper

NM_032383.5

p.Q53H

c.159G>C

1 paper

NM_032383.5

p.Q53H

c.159G>T

2 papers

NM_032383.5

p.R55W

c.163C>T

1 paper

NM_032383.5

p.Q49H

c.147G>C

1 paper

NM_032383.5

p.Q49H

c.147G>T

1 paper

NM_032383.5

p.F58Y

c.173T>A

1 paper

NM_032383.5

p.A47G

c.140C>G

1 paper

NM_032383.5

p.A45insFs

c.134dupC

1 paper

NM_032383.5

p.A43T

c.127G>A

1 paper

NM_032383.5

p.V64L

c.190G>C

1 paper

NM_032383.5

p.V64L

c.190G>T

1 paper

NM_032383.5

p.R66C

c.196C>T