Varaico: Literature-Extracted Genetic Variants

Gene:KRT7
Variant:p.L119P

KRT7

245 papers

RefSeq Summary

The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpre...

Pfam Domains

Keratin_2_headaa 49–87UCSCKeratin type II head
Filamentaa 90–402UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 7

HGNC Alias Symbols

K7; CK7; CK-7; K2C7; SCL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005556.4
p.L119P
c.356T>C
Surrounding Variants
1 paper
NM_005556.4
p.K117N
c.351G>C
1 paper
NM_005556.4
p.K117N
c.351G>T
1 paper
NM_005556.4
p.Q115L
c.344A>T
1 paper
NM_005556.4
p.Q114*
c.340C>T
1 paper
NM_005556.4
p.F111S
c.332T>C
1 paper
NM_005556.4
p.R110R
c.330G>A
1 paper
NM_005556.4
p.K133insFs
c.398_399insG
1 paper
NM_005556.4
p.D139N
c.415G>A
1 paper
NM_005556.4
p.D139delFs
c.416_417delAC
1 paper
NM_005556.4
p.A143insFs
c.427_428insA
1 paper
NM_005556.4
p.A143A
c.429C>T
1 paper
NM_005556.4
p.A146V
c.437C>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."