Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP3-1
Variant:p.Q44H

KRTAP3-1

7 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 3-1

HGNC Alias Symbol

KAP3.1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_031958.2
p.Q44H
c.132G>C
Surrounding Variants
1 paper
NM_031958.2
p.Q44H
c.132G>T
1 paper
NM_031958.2
p.I40V
c.118A>G
1 paper
NM_031958.2
p.C20G
c.58T>G
1 paper
NM_031958.2
p.R97H
c.290G>A
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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."