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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRTAP12-3

KRTAP12-3

21q22.3 (UCSC)GTEx

1 paper

Gene Aliases

HGNC Name

keratin associated protein 12-3

HGNC Alias Symbol

KRTAP12.3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr21:44658154 A>C

NM_198697.2

p.S59R

c.175A>C

exact variant not in gnomAD7 overlapping SVs

chr21:44658156 C>A

NM_198697.2

p.S59R

c.177C>A

exact variant not in gnomAD7 overlapping SVs

chr21:44658156 C>G

NM_198697.2

p.S59R

c.177C>G

exact variant not in gnomAD7 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."