Varaico: Literature-Extracted Genetic Variants

Gene:SEC14L3
Variant:p.R364C

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
2 papers
NM_174975.5
p.R364C
c.1090C>T
Surrounding Variants
1 paper
NM_174975.5
p.A374T
c.1120G>A
1 paper
NM_174975.5
p.E357*
c.1069G>T
1 paper
NM_174975.5
p.E349K
c.1045G>A
1 paper
NM_174975.5
p.A344T
c.1030G>A
4 papers
NM_174975.5
p.D335E
c.1005T>G
4 papers
NM_174975.5
p.D335E
c.1005T>A
1 paper
NM_174975.5
p.G331W
c.991G>T
1 paper
NM_174975.5
p.D310D
c.930T>C
1 paper
NM_174975.5
p.C301W
c.903C>G
1 paper
NM_174975.5
p.P299T
c.895C>A
1 paper
NM_174975.5
p.R286H
c.857G>A
2 papers
NM_174975.5
p.S281L
c.842C>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."