Varaico: Literature-Extracted Genetic Variants

HPS1

308 papers

RefSeq Summary

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different prot...

Pfam Domains

Fuz_longin_1aa 2–159UCSCFirst Longin domain of FUZ, MON1 and HPS1

Fuz_longin_2aa 204–266UCSCSecond Longin domain of FUZ, MON1 and HPS1

Fuz_longin_2aa 204–405UCSCSecond Longin domain of FUZ, MON1 and HPS1

Fuz_longin_3aa 540–695UCSCThird Longin domain of FUZ, MON1 and HPS1

Gene Aliases

HGNC Name

HPS1 biogenesis of lysosomal organelles complex 3 subunit 1

HGNC Alias Symbol

BLOC3S1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000195.5

p.R651H

c.1952G>A

Surrounding Variants

2 papers

NM_000195.5

p.R651C

c.1951C>T

1 paper

NM_000195.5

p.Y653C

c.1958A>G

2 papers

NM_000195.5

p.R647Splc

c.1941-2A>G

1 paper

NM_000195.5

p.P658L

c.1973C>T

1 paper

NM_000195.5

p.E660delFs

c.1978delC

1 paper

NM_000195.5

p.Y665H

c.1993T>C

6 papers

NM_000195.5

p.E666*

c.1996G>T

2 papers

NM_000195.5

p.E666Q

c.1996G>C

5 papers

NM_000195.5

p.E666K

c.1996G>A

14 papers

NM_000195.5

p.L668P

c.2003T>C

1 paper

NM_000195.5

p.L670P

c.2009T>C

3 papers

NM_000195.5

p.H671fs

c.2011_2012fs