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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LCE3B

LCE3B

1q21.3 (UCSC)OMIM GTEx

8 papers

Pfam Domains

LCEaa 1–95UCSCLate cornified envelope

Gene Aliases

HGNC Name

late cornified envelope 3B

HGNC Alias Symbol

LEP14

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr1:152614007 G>A

NM_178433.1

p.C66Y

c.197G>A

exact variant not in gnomAD239 overlapping SVs

chr1:152614009 C>T

NM_178433.1

p.R67W

c.199C>T

Exome: 0.0% (AC=244, hom=82)Genome: 0.2% (AC=225, hom=59)239 overlapping SVs

chr1:152614012 C>T

NM_178433.1

p.R68C

c.202C>T

Exome: 0.0% (AC=290, hom=113)Genome: 0.0% (AC=15, hom=5)239 overlapping SVs

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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."