Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP1-5
Variant:p.S90F

KRTAP1-5

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_B2aa 1–76UCSCKeratin, high sulfur B2 protein
Keratin_B2aa 71–174UCSCKeratin, high sulfur B2 protein

Gene Aliases

HGNC Name

keratin associated protein 1-5

HGNC Alias Symbol

KAP1.5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_031957.2
p.S90F
c.269C>T
Surrounding Variants
3 papers
NM_031957.2
p.I88T
c.263T>C
1 paper
NM_031957.2
p.C76_C86del11
c.226_257del33
1 paper
NM_031957.2
p.C76_C86del0
c.228_257del30
1 paper
NM_031957.2
p.C76R
c.226T>C
1 paper
NM_031957.2
p.S74Fs
c.222delinsTCTGCFs
3 papers
NM_031957.2
p.R124H
c.371G>A
2 papers
NM_031957.2
p.G127V
c.380G>T
1 paper
NM_031957.2
p.G127D
c.380G>A
1 paper
NM_031957.2
p.T52A
c.154A>G
1 paper
NM_031957.2
p.P131fs
c.391_392fs
3 papers
NM_031957.2
p.P132fs
c.394_395fs
3 papers
NM_031957.2
p.P132delFs
c.396delG
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