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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LDLRAD4

Variant:p.Q7delFs

LDLRAD4

18p11.21 (UCSC)OMIM GTEx

28 papers

Pfam Domains

Ldl_recept_aaa 13–47UCSCLow-density lipoprotein receptor domain class A

PMEPA1_helicalaa 47–94UCSCPMEPA1 helical domain

Gene Aliases

HGNC Name

low density lipoprotein receptor class A domain containing 4

HGNC Previous Name

chromosome 18 open reading frame 1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr18:13387740 TC>T

NM_001378100.1

p.Q7delFs

c.19delC

exact variant not in gnomAD1 overlapping SV

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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."