Varaico: Literature-Extracted Genetic Variants

Gene:LCE2D
Variant:p.R79H

LCE2D

23 papers

Pfam Domains

LCEaa 1–30UCSCLate cornified envelope
LCEaa 24–110UCSCLate cornified envelope

Gene Aliases

HGNC Name

late cornified envelope 2D

HGNC Previous Symbol

SPRL1A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_178430.4
p.R79H
c.236G>A
Surrounding Variants
1 paper
NM_178430.4
p.L80I
c.238C>A
1 paper
NM_178430.4
p.R83W
c.247C>T
1 paper
NM_178430.4
p.H75_H76delFs
c.224_227del4
1 paper
NM_178430.4
p.C72C
c.216C>T
1 paper
NM_178430.4
p.C72S
c.215G>C
1 paper
NM_178430.4
p.C72S
c.214T>A
3 papers
NM_178430.4
p.S88C
c.262A>T
2 papers
NM_178430.4
p.G69G
c.207T>C
1 paper
NM_178430.4
p.P89L
c.266C>T
1 paper
NM_178430.4
p.S60C
c.179C>G
1 paper
NM_178430.4
p.A99A
c.297C>G
1 paper
NM_178430.4
p.S54G
c.160A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."