Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP4-8
Variant:p.P27H

KRTAP4-8

64 papers

Pfam Domains

Keratin_B2_2aa 34–78UCSCKeratin, high sulfur B2 protein
Keratin_B2_2aa 94–138UCSCKeratin, high sulfur B2 protein
Keratin_B2_2aa 132–178UCSCKeratin, high sulfur B2 protein

Gene Aliases

HGNC Name

keratin associated protein 4-8

HGNC Alias Symbol

KAP4.8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_031960.3
p.P27H
c.80C>A
Surrounding Variants
3 papers
NM_031960.3
p.C30*
c.90T>A
1 paper
NM_031960.3
p.T38N
c.113C>A
1 paper
NM_031960.3
p.Q13H
c.39A>T
1 paper
NM_031960.3
p.Q13H
c.39A>C
1 paper
NM_031960.3
p.S47S
c.141C>T
1 paper
NM_031960.3
p.R51*
c.151A>T
1 paper
NM_031960.3
p.R51S
c.153A>T
1 paper
NM_031960.3
p.M1insFs
c.2_3insC
3 papers
NM_031960.3
p.M1insFs
c.1_2insA
1 paper
NM_031960.3
p.M1fs
c.1_2fs
1 paper
NM_031960.3
p.M1insFs
c.1_2insC
2 papers
NM_031960.3
p.M1_V2insC
c.1_5ins3
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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."