Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP1-5
Variant:p.P132fs

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
Selected Variant
3 papers
NM_031957.2
p.P132fs
c.394_395fs
Surrounding Variants
3 papers
NM_031957.2
p.P132delFs
c.396delG
1 paper
NM_031957.2
p.C133fs
c.397_398fs
1 paper
NM_031957.2
p.P131fs
c.391_392fs
1 paper
NM_031957.2
p.V135G
c.404T>G
2 papers
NM_031957.2
p.G127V
c.380G>T
1 paper
NM_031957.2
p.G127D
c.380G>A
3 papers
NM_031957.2
p.R124H
c.371G>A
2 papers
NM_031957.2
p.S142F
c.425C>T
1 paper
NM_031957.2
p.Q150K
c.448C>A
1 paper
NM_031957.2
p.R155C
c.463C>T
1 paper
NM_031957.2
p.G160E
c.479G>A
1 paper
NM_031957.2
p.P172S
c.514C>T
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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."