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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LENEP

Variant:p.G17R

LENEP

4 papers

RefSeq Summary

The ocular lens is a tissue of epithelial origin and devoid of blood vessels and nerves. Cells of the lens epithelium are responsible for the growth and maintenance of the lens through mitosis, protei...

Pfam Domains

LEP503aa 1–61UCSCLens epithelial cell protein LEP503

Gene Aliases

HGNC Name

lens epithelial protein

HGNC Alias Symbol

LEP503

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr1:154993656 G>C

NM_001394530.1

p.G17R

c.49G>C

LEP503

exact variant not in gnomAD232 overlapping SVs

Surrounding Variants

1 paper

chr1:154993656 G>A

NM_001394530.1

p.G17R

c.49G>A

LEP503

Exome: 0.0% (AC=19, hom=0)Genome: 0.0% (AC=1, hom=0)232 overlapping SVs

1 paper

chr1:154993613 GCCCCGGACACAGCCCCTAGCCCAAACCCTACCCTTC>G

NM_001394530.1

p.P3_F14del12

c.7_41del36

LEP503

exact variant not in gnomAD232 overlapping SVs

1 paper

chr1:154993609 TGCAGCCCCGGAC>T

NM_001394530.1

p.M1_T5del0

c.3_14del12

LEP503

Exome: 0.0% (AC=0, hom=0)Genome: n/a232 overlapping SVs

1 paper

chr1:154993705 G>A

NM_001394530.1

p.G33D

c.98G>A

LEP503

exact variant not in gnomAD232 overlapping SVs

1 paper

chr1:154993782 C>G

NM_001394530.1

p.L59V

c.175C>G

LEP503

Exome: 0.0% (AC=22, hom=0)Genome: 0.0% (AC=6, hom=0)232 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."