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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRTAP20-1

KRTAP20-1

21q22.11 (UCSC)GTEx

7 papers

Pfam Domains

KRTAPaa 1–50UCSCKeratin-associated matrix

Gene Aliases

HGNC Name

keratin associated protein 20-1

HGNC Alias Symbol

KAP20.1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr21:30616482 G>A

NM_181615.2

p.G10S

c.28G>A

exact variant not in gnomAD12 overlapping SVs

chr21:30616607 G>A

NM_181615.2

p.W51*

c.153G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a12 overlapping SVs

chr21:30616609 C>T

NM_181615.2

p.S52L

c.155C>T

exact variant not in gnomAD12 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."