Varaico: Literature-Extracted Genetic Variants

Gene:BSCL2
Variant:p.Y106_R107delFs

BSCL2

310 papers

RefSeq Summary

This gene encodes the multi-pass transmembrane protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been a...

Pfam Domains

Seipinaa 39–243UCSCPutative adipose-regulatory protein (Seipin)

Gene Aliases

HGNC Name

BSCL2 lipid droplet biogenesis associated, seipin

HGNC Previous Symbols

GNG3LG; SPG17

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
10 papers
NM_032667.6
p.Y106_R107delFs
c.317_321del5
NM_001122955.4
p.P169_R171delFs
c.507_511del5
Surrounding Variants
1 paper
NM_001122955.4
p.V172I
c.514G>A
2 papers
NM_001122955.4
p.R171L
c.512G>T
1 paper
NM_001122955.4
p.R171H
c.512G>A
1 paper
NM_001122955.4
p.Y170_R171del1
c.509_511delGAT
1 paper
NM_001122955.4
p.R171C
c.511C>T
1 paper
NM_001122955.4
p.T173fs
c.517_518fs
1 paper
NM_001122955.4
p.Y170fs
c.508_509fs
6 papers
NM_001122955.4
p.T173insFs
c.517_518insA
NM_032667.6
p.T109insFs
c.517dupA
1 paper
NM_001122955.4
p.T173N
c.518C>A
2 papers
NM_001122955.4
p.T173fs
c.517_518fs
1 paper
NM_001122955.4
p.T173_L174insFs
c.519_520insA
1 paper
NM_032667.6
p.Y106fs
c.316_317fs
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