Varaico: Literature-Extracted Genetic Variants

Gene:LCE1B
Variant:p.C75_C76delFs

LCE1B

25 papers

Pfam Domains

LCEaa 1–61UCSCLate cornified envelope
LCEaa 55–118UCSCLate cornified envelope

Gene Aliases

HGNC Name

late cornified envelope 1B

HGNC Previous Symbol

SPRL2A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_178349.2
p.C75_C76delFs
c.224_227del4
Surrounding Variants
1 paper
NM_178349.2
p.C75Y
c.224G>A
1 paper
NM_178349.2
p.G71E
c.212G>A
1 paper
NM_178349.2
p.R82C
c.244C>T
1 paper
NM_178349.2
p.R82H
c.245G>A
3 papers
NM_178349.2
p.R83H
c.248G>A
1 paper
NM_178349.2
p.R83L
c.248G>T
1 paper
NM_178349.2
p.C87*
c.261C>A
1 paper
NM_178349.2
p.P90H
c.269C>A
1 paper
NM_178349.2
p.S56C
c.167C>G
1 paper
NM_178349.2
p.G94G
c.282C>A
1 paper
NM_178349.2
p.S54ins6
c.161_162ins18
1 paper
NM_178349.2
p.S54fs
c.160_161fs
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