Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.R6R

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.R6R
c.18C>A
Surrounding Variants
4 papers
NM_000526.5
p.R6delFs
c.17delC
2 papers
NM_000526.5
p.R6L
c.17G>T
1 paper
NM_000526.5
p.R6insFs
c.16_17insCT
1 paper
NM_000526.5
p.R6H
c.17G>A
4 papers
NM_000526.5
p.Q7*
c.19C>T
1 paper
NM_000526.5
p.Q7E
c.19C>G
1 paper
NM_000526.5
p.Q7K
c.19C>A
1 paper
NM_000526.5
p.R6C
c.16C>T
1 paper
NM_000526.5
p.R6fs
c.16_17fs
1 paper
NM_000526.5
p.Q7R
c.20A>G
1 paper
NM_000526.5
p.S5R
c.15C>G
1 paper
NM_000526.5
p.S5G
c.13A>G
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