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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRTAP22-1

KRTAP22-1

21q22.11 (UCSC)GTEx

4 papers

Pfam Domains

KRTAPaa 1–42UCSCKeratin-associated matrix

Gene Aliases

HGNC Name

keratin associated protein 22-1

HGNC Alias Symbol

KAP22.1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr21:30601139 T>A

NM_181620.2

p.Y7N

c.19T>A

exact variant not in gnomAD11 overlapping SVs

chr21:30601202 G>A

NM_181620.2

p.G28S

c.82G>A

Exome: 0.0% (AC=33, hom=0)Genome: 0.0% (AC=3, hom=0)11 overlapping SVs

chr21:30601254 C>G

NM_181620.2

p.S45C

c.134C>G

exact variant not in gnomAD11 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."