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.S632_D633insFs

c.1896_1897dupCG

Surrounding Variants

1 paper

NM_000195.5

p.S632S

c.1896C>T

1 paper

NM_000195.5

p.D634_S635insFs

c.1902_1903insA

2 papers

NM_000195.5

p.L631F

c.1891C>T

7 papers

NM_000195.5

p.V630I

c.1888G>A

3 papers

NM_000195.5

p.P629delFs

c.1887delG

1 paper

NM_000195.5

p.V630fs

c.1888_1889fs

1 paper

NM_000195.5

p.P629P

c.1887C>T

1 paper

NM_000195.5

p.I638V

c.1912A>G

3 papers

NM_000195.5

p.G639S

c.1915G>A

1 paper

NM_000195.5

p.G639D

c.1916G>A

1 paper

NM_000195.5

p.G643E

c.1928G>A

1 paper

NM_000195.5

p.K622E

c.1864A>G