Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.G16_S17insCT

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.G16_S17insCT
c.46_50ins6
Surrounding Variants
1 paper
NM_000526.5
p.G16A
c.47G>C
1 paper
NM_000526.5
p.G16D
c.47G>A
1 paper
NM_000526.5
p.K15R
c.44A>G
3 papers
NM_000526.5
p.C18S
c.52T>A
3 papers
NM_000526.5
p.C18S
c.53G>C
1 paper
NM_000526.5
p.C18delins
c.53delinsA
1 paper
NM_000526.5
p.S13S
c.39C>A
1 paper
NM_000526.5
p.C18C
c.54C>T
7 papers
NM_000526.5
p.C18*
c.54C>A
1 paper
NM_000526.5
p.S13P
c.37T>C
1 paper
NM_000526.5
p.G19R
c.55G>C
1 paper
NM_000526.5
p.G19S
c.55G>A
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