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.V385fs

c.1153_1154fs

Surrounding Variants

2 papers

NM_032383.5

p.H384H

c.1152C>T

2 papers

NM_032383.5

p.V385_T387delFs

c.1153_1160del8

1 paper

NM_032383.5

p.T387K

c.1160C>A

1 paper

NM_032383.5

p.F382L

c.1146T>A

1 paper

NM_032383.5

p.F382L

c.1146T>G

1 paper

NM_032383.5

p.F382L

c.1144T>C

12 papers

NM_032383.5

p.S388Splc

c.1163+1G>A

1 paper

NM_032383.5

p.S388Splc

c.1163+1G>C

2 papers

NM_032383.5

p.T379M

c.1136C>T

1 paper

NM_032383.5

p.L378F

c.1132C>T

1 paper

NM_032383.5

p.P370L

c.1109C>T

2 papers

NM_032383.5

p.Y369_S373delins

c.1107_1119delinsC