Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.T118I

KRT14

650 papers

RefSeq Summary

This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecul...

Pfam Domains

Filamentaa 114–425UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 14

HGNC Previous Symbols

EBS3; EBS4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000526.5
p.T118I
c.353C>T
Surrounding Variants
1 paper
NM_000526.5
p.G107_T118del0
c.321_353del33
10 papers
NM_000526.5
p.M119V
c.355A>G
28 papers
NM_000526.5
p.M119T
c.356T>C
13 papers
NM_000526.5
p.M119I
c.357G>T
13 papers
NM_000526.5
p.M119I
c.357G>C
13 papers
NM_000526.5
p.M119I
c.357G>A
6 papers
NM_000526.5
p.K116N
c.348G>T
6 papers
NM_000526.5
p.K116N
c.348G>C
7 papers
NM_000526.5
p.Q120R
c.359A>G
2 papers
NM_000526.5
p.K116*
c.346A>T
3 papers
NM_000526.5
p.K116E
c.346A>G
1 paper
NM_000526.5
p.L111_Q120delFs
c.332_360del29
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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."