Varaico: Literature-Extracted Genetic Variants

Gene:BSCL2
Variant:p.P72L

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
1 paper
NM_001122955.4
p.P72L
c.215C>T
Surrounding Variants
1 paper
NM_001122955.4
p.P72S
c.214C>T
1 paper
NM_001122955.4
p.L75L
c.223C>T
1 paper
NM_001122955.4
p.L74_L75delFs
c.222_223delGT
1 paper
NM_001122955.4
p.V66I
c.196G>A
1 paper
NM_001122955.4
p.M65I
c.195G>T
1 paper
NM_001122955.4
p.M65I
c.195G>C
1 paper
NM_001122955.4
p.E79K
c.235G>A
1 paper
NM_001122955.4
p.M65I
c.195G>A
1 paper
NM_032667.6
p.M1delFs
c.2delA
1 paper
NM_001122955.4
p.E79G
c.236A>G
1 paper
NM_001122955.4
p.M65V
c.193A>G
1 paper
NM_001122955.4
p.M65Fs
c.193delinsGGAFs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."