Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.V404M

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.V404M
c.1210G>A
Surrounding Variants
1 paper
NM_000526.5
p.V404A
c.1211T>C
1 paper
NM_000526.5
p.K405*
c.1213A>T
1 paper
NM_000526.5
p.L402L
c.1204C>T
1 paper
NM_000526.5
p.L402V
c.1204C>G
3 papers
NM_000526.5
p.L401P
c.1202T>C
1 paper
NM_000526.5
p.R407G
c.1219C>G
1 paper
NM_000526.5
p.L401V
c.1201C>G
1 paper
NM_000526.5
p.T406delFs
c.1218delC
1 paper
NM_000526.5
p.R407Q
c.1220G>A
1 paper
NM_000526.5
p.Q386_I400ins5
c.1158_1199dup42
4 papers
NM_000526.5
p.L408M
c.1222C>A
1 paper
NM_000526.5
p.I400V
c.1198A>G
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