Varaico: Literature-Extracted Genetic Variants

BLOC1S2

28 papers

RefSeq Summary

This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the pro...

Pfam Domains

BLOC1_2aa 42–137UCSCBiogenesis of lysosome-related organelles complex-1 subunit 2

Gene Aliases

HGNC Name

biogenesis of lysosomal organelles complex 1 subunit 2

HGNC Alias Symbols

MGC10120; FLJ30135; BLOS2; BORCS2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 22 variants

4 papers

NM_173809.5

p.Y51*

c.153C>G

4 papers

NM_173809.5

p.Y51*

c.153C>A

2 papers

NM_173809.5

p.K30E

c.88A>G

1 paper

NM_173809.5

p.M1K

c.2T>A

1 paper

NM_173809.5

p.E6del1

c.16_18delCTC

1 paper

NM_173809.5

p.V8V

c.24A>G

1 paper

NM_173809.5

p.A10S

c.28G>T

1 paper

NM_173809.5

p.R12R

c.36G>A

1 paper

NM_173809.5

p.S13R

c.37A>C

1 paper

NM_173809.5

p.S13R

c.39T>G

1 paper

NM_173809.5

p.S13R

c.39T>A

1 paper

NM_173809.5

p.P16_R18del3

c.46_53del9