Varaico: Literature-Extracted Genetic Variants

Gene:LCE1D

LCE1D

35 papers

Pfam Domains

LCEaa 1–59UCSCLate cornified envelope
LCEaa 52–114UCSCLate cornified envelope

Gene Aliases

HGNC Name

late cornified envelope 1D

HGNC Alias Symbol

LEP4

Papers
RefSeq ID
Protein change
DNA change
1–12 of 21 variants
8 papers
NM_178352.3
p.R84H
c.251G>A
5 papers
NM_178352.3
p.S107G
c.319A>G
4 papers
NM_178352.3
p.R78H
c.233G>A
4 papers
NM_178352.3
p.*115G
c.343T>G
3 papers
NM_178352.3
p.G45R
c.133G>A
3 papers
NM_178352.3
p.G45R
c.133G>C
1 paper
NM_178352.3
p.K15R
c.44A>G
1 paper
NM_178352.3
p.P27P
c.81T>A
1 paper
NM_178352.3
p.S38Y
c.113C>A
1 paper
NM_178352.3
p.S44Y
c.131C>A
1 paper
NM_178352.3
p.N59T
c.176A>C
1 paper
NM_178352.3
p.N59S
c.176A>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."