Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP4-1
Variant:p.L87V

KRTAP4-1

10 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 29–74UCSCKeratin, high sulfur B2 protein
Keratin_B2_2aa 107–146UCSCKeratin, high sulfur B2 protein

Gene Aliases

HGNC Name

keratin associated protein 4-1

HGNC Previous Symbol

KRTAP4-10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001386841.1
p.L87V
c.259C>G
Surrounding Variants
1 paper
NM_001386841.1
p.S82_R85del0
c.246_254del9
1 paper
NM_001386841.1
p.S82_R85del4
c.244_254del12
1 paper
NM_001386841.1
p.S96N
c.287G>A
1 paper
NM_001386841.1
p.P114Fs
c.341delinsAGACCACCTGCTGCCFs
2 papers
NM_001386841.1
p.R46H
c.137G>A
1 paper
NM_001386841.1
p.C29_C35delFs
c.85_104del20
1 paper
NM_001386841.1
p.S28_C29delFs
c.82_85del4
1 paper
NM_001386841.1
p.G7insFs
c.20dupG
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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."