Varaico: Literature-Extracted Genetic Variants

Gene:BLOC1S6
Variant:p.C95_H96insFs

BLOC1S6

49 papers

RefSeq Summary

The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms...

Pfam Domains

Snapin_Pallidinaa 55–145UCSCSnapin/Pallidin

Gene Aliases

HGNC Name

biogenesis of lysosomal organelles complex 1 subunit 6

HGNC Previous Symbol

PLDN

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_012388.4
p.C95_H96insFs
c.285_286dupTC
Surrounding Variants
2 papers
NM_012388.4
p.H96fs
c.286_287fs
1 paper
NM_012388.4
p.L99F
c.297G>C
1 paper
NM_012388.4
p.L99F
c.297G>T
1 paper
NM_001311255.1
p.N107delins
c.319_320delinsAT
1 paper
NM_012388.4
p.L104_F105Splc
c.312+1G>T
1 paper
NM_012388.4
p.L81W
c.242T>G
8 papers
NM_012388.4
p.Q78*
c.232C>T
3 papers
NM_012388.4
p.E107delins
c.319_320delinsAT
1 paper
NM_012388.4
p.A108V
c.323C>T
1 paper
NM_012388.4
p.H110R
c.329A>G
1 paper
NM_012388.4
p.H110Q
c.330C>A
1 paper
NM_012388.4
p.H110Q
c.330C>G
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