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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRTAP19-2

KRTAP19-2

21q22.11 (UCSC)GTEx

4 papers

Pfam Domains

KRTAPaa 1–46UCSCKeratin-associated matrix

Gene Aliases

HGNC Name

keratin associated protein 19-2

HGNC Alias Symbol

KAP19.2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr21:30487333 C>T

NM_181608.2

p.G6S

c.16G>A

Exome: 0.0% (AC=117, hom=0)Genome: 0.0% (AC=9, hom=0)9 overlapping SVs

chr21:30487264 C>G

NM_181608.2

p.G29R

c.85G>C

Exome: 0.1% (AC=1548, hom=5)Genome: 0.1% (AC=93, hom=0)8 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."