Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.M272R

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
10 papers
NM_000526.5
p.M272R
c.815T>G
Surrounding Variants
19 papers
NM_000526.5
p.M272T
c.815T>C
6 papers
NM_000526.5
p.D273G
c.818A>G
1 paper
NM_000526.5
p.D273E
c.819C>G
1 paper
NM_000526.5
p.D273E
c.819C>A
1 paper
NM_000526.5
p.V270V
c.810G>T
1 paper
NM_000526.5
p.A274T
c.820G>A
2 papers
NM_000526.5
p.V270A
c.809T>C
8 papers
NM_000526.5
p.A274D
c.821C>A
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
1 paper
NM_000526.5
p.P276T
c.826C>A
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