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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EPYC

Variant:p.L43*

EPYC

12q21.33 (UCSC)OMIM GTEx

39 papers

RefSeq Summary

Dermatan sulfate proteoglycan 3 is a member of the small leucine-rich repeat proteoglycan family. This gene is composed of seven exons. It regulates fibrillogenesis by interacting with collagen fibril...

Pfam Domains

LRRNTaa 117–142UCSCLeucine rich repeat N-terminal domain

LRR_8aa 151–203UCSCLeucine rich repeat

Gene Aliases

HGNC Name

epiphycan

HGNC Previous Symbol

DSPG3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr12:91002438 A>T

NM_004950.5

p.L43*

c.128T>A

exact variant not in gnomAD35 overlapping SVs

Surrounding Variants

chr12:91002488 G>T

NM_004950.5

p.I26I

c.78C>A

exact variant not in gnomAD35 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."