Varaico: Literature-Extracted Genetic Variants

Gene:KRT18

KRT18

387 papers

RefSeq Summary

KRT18 encodes the type I intermediate filament chain keratin 18. Keratin 18, together with its filament partner keratin 8, are perhaps the most commonly found members of the intermediate filament gene...

Pfam Domains

Filamentaa 79–391UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 18

HGNC Previous Name

keratin 18, type I

Papers
RefSeq ID
Protein change
DNA change
1–12 of 213 variants
34 papers
NM_000224.3
p.R90C
c.268C>T
21 papers
NM_000224.3
p.G62C
c.184G>T
19 papers
NM_000224.3
p.G38C
c.112G>T
14 papers
NM_000224.3
p.H128L
c.383A>T
12 papers
NM_000224.3
p.A21P
c.61G>C
12 papers
NM_000224.3
p.R27W
c.79C>T
12 papers
NM_000224.3
p.A32S
c.94G>T
12 papers
NM_000224.3
p.S34R
c.100A>C
12 papers
NM_000224.3
p.S34R
c.102C>A
12 papers
NM_000224.3
p.S34R
c.102C>G
11 papers
NM_000224.3
p.P28Q
c.83C>A
11 papers
NM_000224.3
p.G43R
c.127G>C
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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."