Varaico: Literature-Extracted Genetic Variants

Gene:LCE1A
Variant:p.P30L

LCE1A

21 papers

RefSeq Summary

LCE1A belongs to the late cornified envelope (LCE) gene cluster within the epidermal differentiation complex (EDC) on chromosome 1. The LCE cluster contains multiple conserved genes that encode stratu...

Pfam Domains

LCEaa 1–30UCSCLate cornified envelope
LCEaa 21–110UCSCLate cornified envelope

Gene Aliases

HGNC Name

late cornified envelope 1A

HGNC Alias Symbol

LEP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_178348.2
p.P30L
c.89C>T
Surrounding Variants
1 paper
NM_178348.2
p.K32E
c.94A>G
1 paper
NM_178348.2
p.K28T
c.83A>C
2 papers
NM_178348.2
p.K28R
c.83A>G
1 paper
NM_178348.2
p.P25P
c.75C>T
1 paper
NM_178348.2
p.P21L
c.62C>T
1 paper
NM_178348.2
p.C20S
c.59G>C
1 paper
NM_178348.2
p.P13P
c.39T>C
1 paper
NM_178348.2
p.P13H
c.38C>A
1 paper
NM_178348.2
p.Q7K
c.19C>A
1 paper
NM_178348.2
p.G59S
c.175G>A
1 paper
NM_178348.2
p.G59C
c.175G>T
3 papers
NM_178348.2
p.G59V
c.176G>T
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