Varaico: Literature-Extracted Genetic Variants

Gene:LCE2B
Variant:p.G54S

LCE2B

20 papers

RefSeq Summary

This gene is one of the at least 20 genes expressed during epidermal differentiation and located on chromosomal band 1q21. This gene is involved in epidermal differentiation, and it is expressed at hi...

Pfam Domains

LCEaa 1–31UCSCLate cornified envelope
LCEaa 23–110UCSCLate cornified envelope

Gene Aliases

HGNC Name

late cornified envelope 2B

HGNC Previous Symbol

SPRL1B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014357.5
p.G54S
c.160G>A
Surrounding Variants
1 paper
NM_014357.5
p.P50S
c.148C>T
1 paper
NM_014357.5
p.P58L
c.173C>T
1 paper
NM_014357.5
p.S60P
c.178T>C
1 paper
NM_014357.5
p.C63F
c.188G>T
1 paper
NM_014357.5
p.A38fs
c.112_113fs
1 paper
NM_014357.5
p.P37insFs
c.111dupA
1 paper
NM_014357.5
p.C36R
c.106T>C
1 paper
NM_014357.5
p.Q35fs
c.103_104fs
1 paper
NM_014357.5
p.H75_H76delFs
c.224_227del4
1 paper
NM_014357.5
p.R79G
c.235C>G
1 paper
NM_014357.5
p.R85W
c.253C>T
1 paper
NM_014357.5
p.P96T
c.286C>A
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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."