Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP17-1
Variant:p.S41C

KRTAP17-1

16 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...

Gene Aliases

HGNC Name

keratin associated protein 17-1

HGNC Alias Symbol

KAP17.1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_031964.2
p.S41C
c.122C>G
Surrounding Variants
2 papers
NM_031964.2
p.G42D
c.125G>A
1 paper
NM_031964.2
p.C43C
c.129C>T
1 paper
NM_031964.2
p.G45A
c.134G>C
5 papers
NM_031964.2
p.G47D
c.140G>A
5 papers
NM_031964.2
p.S46_G50del5
c.136_149del15
1 paper
NM_031964.2
p.C53C
c.159C>T
3 papers
NM_031964.2
p.Q16_N17delFs
c.46_50del5
1 paper
NM_031964.2
p.D7insFs
c.20dupA
1 paper
NM_031964.2
p.P5A
c.13C>G
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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."