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

2 papers

NM_000195.5

p.K475_R476del0

c.1423_1428del6

Surrounding Variants

2 papers

NM_000195.5

p.Q477*

c.1429C>T

1 paper

NM_000195.5

p.L467_R476del10

c.1399_1427del30

2 papers

NM_000195.5

p.R476Q

c.1427G>A

1 paper

NM_000195.5

p.A480T

c.1438G>A

1 paper

NM_000195.5

p.R483W

c.1447C>T

2 papers

NM_000195.5

p.F486_L487insFs

c.1457_1460dup4

1 paper

NM_000195.5

p.T488fs

c.1462_1463fs

1 paper

NM_000195.5

p.T489A

c.1465A>G

1 paper

NM_000195.5

p.T489_A490insFs

c.1467_1468insT

1 paper

NM_000195.5

p.A490D

c.1469C>A

1 paper

NM_000195.5

p.P491L

c.1472C>T

11 papers

NM_000195.5

p.P491R

c.1472C>G