Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP1-5

KRTAP1-5

31 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_B2aa 1–76UCSCKeratin, high sulfur B2 protein
Keratin_B2aa 71–174UCSCKeratin, high sulfur B2 protein

Gene Aliases

HGNC Name

keratin associated protein 1-5

HGNC Alias Symbol

KAP1.5

Papers
RefSeq ID
Protein change
DNA change
1–12 of 26 variants
3 papers
NM_031957.2
p.I88T
c.263T>C
3 papers
NM_031957.2
p.R124H
c.371G>A
3 papers
NM_031957.2
p.P132fs
c.394_395fs
3 papers
NM_031957.2
p.P132delFs
c.396delG
2 papers
NM_031957.2
p.G127V
c.380G>T
2 papers
NM_031957.2
p.S142F
c.425C>T
1 paper
NM_031957.2
p.M1insFs
c.1dupA
1 paper
NM_031957.2
p.C4*
c.12C>A
1 paper
NM_031957.2
p.C20R
c.58T>C
1 paper
NM_031957.2
p.S22C
c.65C>G
1 paper
NM_031957.2
p.Q26_C29delFs
c.76_86del11
1 paper
NM_031957.2
p.F47Y
c.140T>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."