Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.S76_F80delFs

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.S76_F80delFs
c.228_238del11
Surrounding Variants
2 papers
NM_000526.5
p.S79del1
c.235_236delGCT
1 paper
NM_000526.5
p.S79S
c.237C>T
1 paper
NM_000526.5
p.S79N
c.236G>A
5 papers
NM_000526.5
p.G81insFs
c.242_243insG
1 paper
NM_000526.5
p.S78N
c.233G>A
1 paper
NM_000526.5
p.G83S
c.247G>A
3 papers
NM_000526.5
p.S77S
c.231C>T
1 paper
NM_000526.5
p.G83A
c.248G>C
1 paper
NM_000526.5
p.G83G
c.249C>T
1 paper
NM_000526.5
p.S75G
c.223A>G
1 paper
NM_000526.5
p.S74I
c.221G>T
1 paper
NM_000526.5
p.S74insFs
c.221_222insA
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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."