Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP9-2
Variant:p.C56S

KRTAP9-2

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_B2_2aa 80–124UCSCKeratin, high sulfur B2 protein

Gene Aliases

HGNC Name

keratin associated protein 9-2

HGNC Alias Symbol

KAP9.2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_031961.3
p.C56S
c.166T>A
Surrounding Variants
1 paper
NM_031961.3
p.C56S
c.167G>C
4 papers
NM_031961.3
p.T55A
c.163A>G
1 paper
NM_031961.3
p.R53L
c.158G>T
1 paper
NM_031961.3
p.C47_C48delFs
c.139_143del5
1 paper
NM_031961.3
p.S45S
c.135C>T
13 papers
NM_031961.3
p.A41S
c.121G>T
1 paper
NM_031961.3
p.P36S
c.106C>T
1 paper
NM_031961.3
p.C76insFs
c.226_227ins4
1 paper
NM_031961.3
p.C76fs
c.226_227fs
1 paper
NM_031961.3
p.S33_S34ins15
c.97_101ins45
1 paper
NM_031961.3
p.C90_S100del0
c.269_298del30
3 papers
NM_031961.3
p.C19S
c.55T>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."