Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP1-3
Variant:p.T16I

KRTAP1-3

44 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 1–167UCSCKeratin, high sulfur B2 protein

Gene Aliases

HGNC Name

keratin associated protein 1-3

HGNC Alias Symbol

KAP1.3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_030966.2
p.T16I
c.47C>T
Surrounding Variants
1 paper
NM_030966.2
p.S22insFs
c.64_65ins4
1 paper
NM_030966.2
p.S22ins2
c.64_65ins6
1 paper
NM_030966.2
p.C20_S22delFs
c.58_64del7
1 paper
NM_030966.2
p.T19_S22del0
c.57_65del9
1 paper
NM_030966.2
p.C9C
c.27T>C
1 paper
NM_030966.2
p.C20_S22del3
c.58_65del9
3 papers
NM_030966.2
p.C24S
c.70T>A
1 paper
NM_030966.2
p.S7_F8del1
c.20_22delAGC
3 papers
NM_030966.2
p.C24S
c.71G>C
1 paper
NM_030966.2
p.C4S
c.11G>C
1 paper
NM_030966.2
p.C4S
c.10T>A
1 paper
NM_030966.2
p.M1insFs
c.1dupA
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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."