Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP13-1

KRTAP13-1

26 papers

RefSeq Summary

Hair keratins and hair keratin-associated proteins (KAPs), such as KRTAP13-1, are the main structural proteins of hair fibers (Rogers et al., 2002 [PubMed 12359730]).[supplied by OMIM, Mar 2008].

Pfam Domains

PMGaa 1–170UCSCPMG protein

Gene Aliases

HGNC Name

keratin associated protein 13-1

HGNC Alias Symbol

KAP13.1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
2 papers
NM_181599.3
p.S25del1
c.73_74delTCC
2 papers
NM_181599.3
p.S69delFs
c.207delC
2 papers
NM_181599.3
p.V144I
c.430G>A
2 papers
NM_181599.3
p.R148H
c.443G>A
2 papers
NM_181599.3
p.P164T
c.490C>A
1 paper
NM_181599.3
p.G8delFs
c.23_24delGA
1 paper
NM_181599.3
p.A23_S24del2
c.67_71del6
1 paper
NM_181599.3
p.S24F
c.71C>T
1 paper
NM_181599.3
p.G27C
c.79G>T
1 paper
NM_181599.3
p.Y30_P31insFs
c.90_91ins11
1 paper
NM_181599.3
p.P31fs
c.91_92fs
1 paper
NM_181599.3
p.Q34H
c.102G>C
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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."