Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.Q394insFs

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.Q394insFs
c.1180_1181insT
Surrounding Variants
1 paper
NM_000526.5
p.E392insFs
c.1176dupG
1 paper
NM_000526.5
p.N395I
c.1184A>T
5 papers
NM_000526.5
p.E392*
c.1174G>T
1 paper
NM_000526.5
p.E392K
c.1174G>A
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.E381_E390ins3
c.1141_1170dup30
1 paper
NM_000526.5
p.E397V
c.1190A>T
1 paper
NM_000526.5
p.Q396_E397insFs
c.1188_1189insG
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
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