Varaico: Literature-Extracted Genetic Variants

Gene:SEC14L3
Variant:p.L186M

SEC14L3

39 papers

RefSeq Summary

The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for ...

Pfam Domains

CRAL_TRIOaa 81–243UCSCCRAL/TRIO domain

Gene Aliases

HGNC Name

SEC14 like lipid binding 3

HGNC Previous Names

SEC14-like 3 (S. cerevisiae); SEC14-like lipid binding 3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_174975.5
p.L186M
c.556C>A
Surrounding Variants
1 paper
NM_174975.5
p.G157C
c.469G>T
2 papers
NM_174975.5
p.R214C
c.640C>T
4 papers
NM_174975.5
p.R214H
c.641G>A
1 paper
NM_174975.5
p.R130C
c.388C>T
1 paper
NM_174975.5
p.D127G
c.380A>G
1 paper
NM_174975.5
p.Q118E
c.352C>G
2 papers
NM_174975.5
p.I103T
c.308T>C
1 paper
NM_174975.5
p.R93C
c.277C>T
2 papers
NM_174975.5
p.G90S
c.268G>A
1 paper
NM_174975.5
p.L88P
c.263T>C
1 paper
NM_174975.5
p.G87G
c.261C>A
1 paper
NM_174975.5
p.E78_V79Splc
c.234+1G>T
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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."