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.Q503P

c.1508A>C

Surrounding Variants

1 paper

NM_000195.5

p.Q503Q

c.1509G>A

2 papers

NM_000195.5

p.Q503*

c.1507C>T

1 paper

NM_000195.5

p.L502fs

c.1504_1505fs

1 paper

NM_000195.5

p.L498_V506del9

c.1492_1517del27

1 paper

NM_000195.5

p.L498R

c.1493T>G

1 paper

NM_000195.5

p.L509F

c.1525C>T

2 papers

NM_000195.5

p.H497Q

c.1491C>G

2 papers

NM_000195.5

p.H497fs

c.1489_1490fs

2 papers

NM_000195.5

p.H497Q

c.1491C>A

4 papers

NM_000195.5

p.H497fs

c.1489_1490fs

4 papers

NM_000195.5

p.P491_P496insFs

c.1472_1487dup16

1 paper

NM_000195.5

p.P496insFs

c.1487_1488ins16