Varaico: Literature-Extracted Genetic Variants

Gene:LCE1C

LCE1C

21 papers

Pfam Domains

LCEaa 1–26UCSCLate cornified envelope
LCEaa 21–61UCSCLate cornified envelope
LCEaa 56–118UCSCLate cornified envelope

Gene Aliases

HGNC Name

late cornified envelope 1C

HGNC Alias Symbol

LEP3

Papers
RefSeq ID
Protein change
DNA change
5 papers
NM_178351.4
p.C16Y
c.47G>A
1 paper
NM_178351.4
p.C29C
c.87T>C
1 paper
NM_178351.4
p.K32R
c.95A>G
1 paper
NM_178351.4
p.C37F
c.110G>T
1 paper
NM_178351.4
p.G65V
c.194G>T
1 paper
NM_178351.4
p.C67F
c.200G>T
1 paper
NM_178351.4
p.C75_C76delFs
c.224_227del4
1 paper
NM_178351.4
p.R82C
c.244C>T
1 paper
NM_178351.4
p.S100P
c.298T>C
1 paper
NM_178351.4
p.G102fs
c.304_305fs
1 paper
NM_178351.4
p.C118R
c.352T>C
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