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.L393_V394insFs

c.1179_1180insC

Surrounding Variants

1 paper

NM_000195.5

p.V394L

c.1180G>C

2 papers

NM_000195.5

p.V394delFs

c.1182delA

1 paper

NM_000195.5

p.L395fs

c.1183_1184fs

9 papers

NM_000195.5

p.Q397fs

c.1189_1190fs

2 papers

NM_000195.5

p.Q397*

c.1189C>T

1 paper

NM_000195.5

p.P390insFs

c.1169_1170insG

1 paper

NM_000195.5

p.S396del1

c.1186_1187delGGA

1 paper

NM_000195.5

p.Q397R

c.1190A>G

15 papers

NM_000195.5

p.Q397delFs

c.1189delG

1 paper

NM_000195.5

p.Q397fs

c.1189_1190fs

1 paper

NM_000195.5

p.A389P

c.1165G>C

1 paper

NM_000195.5

p.M399T

c.1196T>C