Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.Q396_E397insFs

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.Q396_E397insFs
c.1188_1189insG
Surrounding Variants
1 paper
NM_000526.5
p.E397V
c.1190A>T
10 papers
NM_000526.5
p.Q396*
c.1186C>T
2 papers
NM_000526.5
p.Q396E
c.1186C>G
1 paper
NM_000526.5
p.Y398*
c.1194C>G
1 paper
NM_000526.5
p.Y398*
c.1194C>A
1 paper
NM_000526.5
p.Y398delFs
c.1194delG
1 paper
NM_000526.5
p.N395I
c.1184A>T
1 paper
NM_000526.5
p.I400V
c.1198A>G
1 paper
NM_000526.5
p.Q394insFs
c.1180_1181insT
1 paper
NM_000526.5
p.Q386_I400ins5
c.1158_1199dup42
1 paper
NM_000526.5
p.L401V
c.1201C>G
3 papers
NM_000526.5
p.L401P
c.1202T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."