Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.R365delFs

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
2 papers
NM_000526.5
p.R365delFs
c.1094_1095delGC
Surrounding Variants
2 papers
NM_000526.5
p.Y366H
c.1096T>C
1 paper
NM_000526.5
p.R365P
c.1094G>C
1 paper
NM_000526.5
p.R365H
c.1094G>A
1 paper
NM_000526.5
p.R365C
c.1093C>T
1 paper
NM_000526.5
p.M368L
c.1102A>T
1 paper
NM_000526.5
p.M368L
c.1102A>C
1 paper
NM_000526.5
p.Q369*
c.1105C>T
1 paper
NM_000526.5
p.Q369P
c.1106A>C
1 paper
NM_000526.5
p.L370P
c.1109T>C
1 paper
NM_000526.5
p.E361G
c.1082A>G
1 paper
NM_000526.5
p.E361K
c.1081G>A
1 paper
NM_000526.5
p.L359P
c.1076T>C
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