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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLEC20A

CLEC20A

1q25.2 (UCSC)GTEx

3 papers

Pfam Domains

Lectin_Caa 29–132UCSCLectin C-type domain

Lectin_Caa 169–276UCSCLectin C-type domain

Gene Aliases

HGNC Name

C-type lectin domain containing 20A

HGNC Previous Symbols

NCRNA00083; LINC00083

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr1:178494550 C>A

NM_001395331.1

p.G101W

c.301G>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a181 overlapping SVs

chr1:178494456 C>T

NM_001395331.1

p.C132Y

c.395G>A

Exome: 24.0% (AC=59450, hom=7564)Genome: 29.0% (AC=44036, hom=7045)181 overlapping SVs

chr1:178488506 C>T

NM_001395331.1

p.G308D

c.923G>A

Exome: 0.0% (AC=3, hom=0)Genome: n/a180 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."