Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.V270A

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.V270A
c.809T>C
Surrounding Variants
1 paper
NM_000526.5
p.V270V
c.810G>T
27 papers
NM_000526.5
p.V270M
c.808G>A
1 paper
NM_000526.5
p.N269D
c.805A>G
1 paper
NM_000526.5
p.V268fs
c.802_803fs
10 papers
NM_000526.5
p.M272R
c.815T>G
1 paper
NM_000526.5
p.V268G
c.803T>G
19 papers
NM_000526.5
p.M272T
c.815T>C
1 paper
NM_000526.5
p.V268A
c.803T>C
1 paper
NM_000526.5
p.V268D
c.803T>A
1 paper
NM_000526.5
p.V268L
c.802G>C
6 papers
NM_000526.5
p.D273G
c.818A>G
2 papers
NM_000526.5
p.D267N
c.799G>A
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