Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP4-8

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
1–12 of 52 variants
10 papers
NM_031960.3
p.S68R
c.204C>A
9 papers
NM_031960.3
p.S68R
c.202A>C
9 papers
NM_031960.3
p.S68R
c.204C>G
6 papers
NM_031960.3
p.C95S
c.283T>A
6 papers
NM_031960.3
p.C95S
c.284G>C
5 papers
NM_031960.3
p.V71M
c.211G>A
4 papers
NM_031960.3
p.L151V
c.451C>G
4 papers
NM_031960.3
p.A168T
c.502G>A
3 papers
NM_031960.3
p.M1insFs
c.1_2insA
3 papers
NM_031960.3
p.P27H
c.80C>A
3 papers
NM_031960.3
p.C30*
c.90T>A
3 papers
NM_031960.3
p.C100C
c.300C>T
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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."