Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP4-9
Variant:p.C205C

KRTAP4-9

51 papers

Pfam Domains

Keratin_B2aa 1–142UCSCKeratin, high sulfur B2 protein
Keratin_B2_2aa 157–203UCSCKeratin, high sulfur B2 protein

Gene Aliases

HGNC Name

keratin associated protein 4-9

HGNC Alias Symbol

KAP4.9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001146041.1
p.C205C
c.615T>C
Surrounding Variants
4 papers
NM_001146041.1
p.L203V
c.607T>G
1 paper
NM_001146041.1
p.S198T
c.593G>C
1 paper
NM_001146041.1
p.T188A
c.562A>G
1 paper
NM_001146041.1
p.R182*
c.544C>T
1 paper
NM_001146041.1
p.R177C
c.529C>T
1 paper
NM_001146041.1
p.V176L
c.526G>C
1 paper
NM_001146041.1
p.V176L
c.526G>T
1 paper
NM_001146041.1
p.R171H
c.512G>A
2 papers
NM_001146041.1
p.R161H
c.482G>A
1 paper
NM_001146041.1
p.S158N
c.473G>A
3 papers
NM_001146041.1
p.S157_E166del0
c.469_498del30
2 papers
NM_001146041.1
p.P152P
c.456C>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."