Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP9-9
Variant:p.Y117H

KRTAP9-9

21 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 27–74UCSCKeratin, high sulfur B2 protein
Keratin_B2_2aa 61–104UCSCKeratin, high sulfur B2 protein

Gene Aliases

HGNC Name

keratin associated protein 9-9

HGNC Previous Symbol

KRTAP9-5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030975.2
p.Y117H
c.349T>C
Surrounding Variants
3 papers
NM_030975.2
p.R141H
c.422G>A
1 paper
NM_030975.2
p.P142ins5
c.424_425ins15
1 paper
NM_030975.2
p.C86C
c.258T>C
1 paper
NM_030975.2
p.T152T
c.456C>A
4 papers
NM_030975.2
p.S161Y
c.482C>A
1 paper
NM_030975.2
p.T68insFs
c.202_203insG
2 papers
NM_030975.2
p.L67V
c.199C>G
1 paper
NM_030975.2
p.P35L
c.104C>T
3 papers
NM_030975.2
p.C33_Q34ins15
c.97_101ins45
1 paper
NM_030975.2
p.P21T
c.61C>A
1 paper
NM_030975.2
p.K20R
c.59A>G
2 papers
NM_030975.2
p.W19C
c.57G>C
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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."