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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRTAP3-2

KRTAP3-2

12 papers

RefSeq Summary

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family m...

Pfam Domains

Keratin_matxaa 3–98UCSCKeratin, high-sulphur matrix protein

Gene Aliases

HGNC Name

keratin associated protein 3-2

HGNC Alias Symbol

KAP3.2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr17:40999775 G>A

NM_031959.3

p.R27C

c.79C>T

Keratin_matx

Exome: 18.7% (AC=272609, hom=26222)Genome: 14.8% (AC=22494, hom=2071)12 overlapping SVs

2 papers

chr17:40999696 G>A

NM_031959.3

p.P53L

c.158C>T

Keratin_matx

Exome: 0.7% (AC=9766, hom=113)Genome: 0.5% (AC=829, hom=7)13 overlapping SVs

1 paper

chr17:40999832 T>C

NM_031959.3

p.S8G

c.22A>G

Keratin_matx

Exome: 11.4% (AC=166485, hom=14242)Genome: 23.2% (AC=35329, hom=6880)12 overlapping SVs

1 paper

chr17:40999823 C>T

NM_031959.3

p.V11I

c.31G>A

Keratin_matx

Exome: 0.0% (AC=54, hom=0)Genome: 0.0% (AC=5, hom=0)12 overlapping SVs

1 paper

chr17:40999817 T>C

NM_031959.3

p.T13A

c.37A>G

Keratin_matx

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=1, hom=0)12 overlapping SVs

1 paper

chr17:40999776 G>T

NM_031959.3

p.C26*

c.78C>A

Keratin_matx

exact variant not in gnomAD12 overlapping SVs

1 paper

chr17:40999754 T>C

NM_031959.3

p.S34G

c.100A>G

Keratin_matx

exact variant not in gnomAD12 overlapping SVs

1 paper

chr17:40999709 C>T

NM_031959.3

p.D49N

c.145G>A

Keratin_matx

Exome: 0.0% (AC=4, hom=1)Genome: n/a12 overlapping SVs

1 paper

chr17:40999675 G>A

NM_031959.3

p.P60L

c.179C>T

Keratin_matx

Exome: 0.0% (AC=1, hom=0)Genome: n/a13 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."