Varaico: Literature-Extracted Genetic Variants

Gene:LPIN3
Variant:p.E539K

LPIN3

65 papers

RefSeq Summary

The protein encoded by this gene is a member of the lipin family of proteins, and all family members share strong homology in their C-terminal region. This protein is thought to form hetero-oligomers ...

Pfam Domains

Lipin_Naa 1–107UCSClipin, N-terminal conserved region
Lipin_midaa 438–531UCSCLipin/Ned1/Smp2 multi-domain protein middle domain
LNS2aa 592–817UCSCLNS2 (Lipin/Ned1/Smp2)

Gene Aliases

HGNC Name

lipin 3

HGNC Previous Symbol

LIPN3L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022896.3
p.E539K
c.1615G>A
Surrounding Variants
1 paper
NM_022896.3
p.E540K
c.1618G>A
4 papers
NM_022896.3
p.R532*
c.1594C>T
1 paper
NM_022896.3
p.R526*
c.1576C>T
2 papers
NM_022896.3
p.R522W
c.1564C>T
1 paper
NM_022896.3
p.P571S
c.1711C>T
1 paper
NM_022896.3
p.T587_P588insC
c.1759_1763ins3
1 paper
NM_022896.3
p.P588H
c.1763C>A
1 paper
NM_022896.3
p.S598F
c.1793C>T
1 paper
NM_022896.3
p.D476Y
c.1426G>T
1 paper
NM_022896.3
p.Q465fs
c.1393_1394fs
1 paper
NM_022896.3
p.Y464*
c.1392C>A
1 paper
NM_022896.3
p.Y464*
c.1392C>G
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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."