Varaico: Literature-Extracted Genetic Variants

Gene:KRT13
Variant:p.E149D

KRT13

206 papers

RefSeq Summary

The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided...

Pfam Domains

Filamentaa 103–415UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 13

HGNC Alias Symbols

K13; CK13; MGC3781; MGC161462

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_153490.3
p.E149D
c.447G>C
Surrounding Variants
1 paper
NM_153490.3
p.E149D
c.447G>T
2 papers
NM_153490.3
p.R150P
c.449G>C
17 papers
NM_153490.3
p.R150Q
c.449G>A
1 paper
NM_153490.3
p.D151N
c.451G>A
1 paper
NM_153490.3
p.A146G
c.437C>G
1 paper
NM_153490.3
p.Y152delFs
c.456delG
1 paper
NM_153490.3
p.K142R
c.425A>G
1 paper
NM_153490.3
p.T158S
c.473C>G
1 paper
NM_153490.3
p.W139delFs
c.416_417delCC
1 paper
NM_153490.3
p.K135E
c.403A>G
1 paper
NM_153490.3
p.L132delFs
c.395delA
1 paper
NM_153490.3
p.D131N
c.391G>A
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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."