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.V681A

c.2042T>C

Surrounding Variants

1 paper

NM_000195.5

p.V681L

c.2041G>T

3 papers

NM_000195.5

p.L680fs

c.2038_2039fs

2 papers

NM_000195.5

p.L680L

c.2038C>T

3 papers

NM_000195.5

p.L670_L679delFs

c.2010_2037del28

1 paper

NM_000195.5

p.D678A

c.2033A>C

5 papers

NM_000195.5

p.Q686*

c.2056C>T

1 paper

NM_000195.5

p.Q686R

c.2057A>G

1 paper

NM_000195.5

p.Q686delFs

c.2058delC

2 papers

NM_000195.5

p.R689W

c.2065C>T

2 papers

NM_000195.5

p.L679_A688delFs

c.2037_2064del28

1 paper

NM_000195.5

p.R689Q

c.2066G>A

3 papers

NM_000195.5

p.L679_R690Fs

c.2037_2068delinsCTGGFs