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.P491L

c.1472C>T

Surrounding Variants

11 papers

NM_000195.5

p.P491R

c.1472C>G

1 paper

NM_000195.5

p.P491_S492insFs

c.1473_1474insT

1 paper

NM_000195.5

p.A490D

c.1469C>A

2 papers

NM_000195.5

p.R493fs

c.1477_1478fs

1 paper

NM_000195.5

p.T489_A490insFs

c.1467_1468insT

3 papers

NM_000195.5

p.R493delFs

c.1477delT

1 paper

NM_000195.5

p.T489A

c.1465A>G

1 paper

NM_000195.5

p.T488fs

c.1462_1463fs

1 paper

NM_000195.5

p.R493_G494insFs

c.1479_1480insG

2 papers

NM_000195.5

p.F486_L487insFs

c.1457_1460dup4

1 paper

NM_000195.5

p.G495insFs

c.1484_1485ins16

1 paper

NM_000195.5

p.G495insFs

c.1484_1485ins5