Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.E478ins2

KRT5

514 papers

RefSeq Summary

The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpre...

Pfam Domains

Keratin_2_headaa 16–164UCSCKeratin type II head
Filamentaa 167–480UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 5

HGNC Previous Symbol

EBS2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000424.4
p.E478ins2
c.1432_1433ins6
Surrounding Variants
1 paper
NM_000424.4
p.E478*
c.1432G>T
1 paper
NM_000424.4
p.E478_C479insC
c.1432_1436ins3
8 papers
NM_000424.4
p.E478K
c.1432G>A
7 papers
NM_000424.4
p.E477D
c.1431G>T
1 paper
NM_000424.4
p.E477ins2
c.1430_1431ins6
7 papers
NM_000424.4
p.E477D
c.1431G>C
6 papers
NM_000424.4
p.E477G
c.1430A>G
5 papers
NM_000424.4
p.E477*
c.1429G>T
38 papers
NM_000424.4
p.E477K
c.1429G>A
2 papers
NM_000424.4
p.C479*
c.1437C>A
1 paper
NM_000424.4
p.R480fs
c.1438_1439fs
1 paper
NM_000424.4
p.R480*
c.1438A>T
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