Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP9-8
Variant:p.C56S

KRTAP9-8

23 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 9-8

HGNC Alias Symbol

KAP9.8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_031963.3
p.C56S
c.166T>A
Surrounding Variants
1 paper
NM_031963.3
p.C56S
c.167G>C
1 paper
NM_031963.3
p.N54K
c.162C>A
1 paper
NM_031963.3
p.N54K
c.162C>G
4 papers
NM_031963.3
p.I60T
c.179T>C
1 paper
NM_031963.3
p.R48H
c.143G>A
1 paper
NM_031963.3
p.C65F
c.194G>T
1 paper
NM_031963.3
p.C46_C47del0
c.136_141del6
1 paper
NM_031963.3
p.H107Y
c.319C>T
1 paper
NM_031963.3
p.P108R
c.323C>G
1 paper
NM_031963.3
p.V111I
c.331G>A
1 paper
NM_031963.3
p.N124S
c.371A>G
1 paper
NM_031963.3
p.E136_R141del6
c.406_422del18
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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."