Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.L122V

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.L122V
c.364C>G
Surrounding Variants
12 papers
NM_000526.5
p.L122F
c.364C>T
1 paper
NM_000526.5
p.N123H
c.367A>C
1 paper
NM_000526.5
p.L111_Q120delFs
c.332_360del29
21 papers
NM_000526.5
p.N123S
c.368A>G
3 papers
NM_000526.5
p.N123K
c.369T>G
11 papers
NM_000526.5
p.N123N
c.369T>C
3 papers
NM_000526.5
p.N123K
c.369T>A
7 papers
NM_000526.5
p.Q120R
c.359A>G
1 paper
NM_000526.5
p.D124N
c.370G>A
1 paper
NM_000526.5
p.L122_N123del0
c.364_369del6
13 papers
NM_000526.5
p.M119I
c.357G>T
13 papers
NM_000526.5
p.M119I
c.357G>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."