Varaico: Literature-Extracted Genetic Variants

Gene:KRT2
Variant:p.I584V

KRT2

149 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 21–174UCSCKeratin type II head
Filamentaa 177–490UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 2

HGNC Previous Symbol

KRT2A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000423.3
p.I584V
c.1750A>G
Surrounding Variants
1 paper
NM_000423.3
p.G578D
c.1733G>A
1 paper
NM_000423.3
p.G567C
c.1699G>T
1 paper
NM_000423.3
p.G566G
c.1698C>A
1 paper
NM_000423.3
p.R603K
c.1808G>A
3 papers
NM_000423.3
p.F638L
c.1912T>C
2 papers
NM_000423.3
p.F638L
c.1914T>G
2 papers
NM_000423.3
p.F638L
c.1914T>A
1 paper
NM_000423.3
p.R524K
c.1571G>A
1 paper
NM_000423.3
p.G523insFs
c.1568dupG
4 papers
NM_000423.3
p.A517G
c.1550C>G
1 paper
NM_000423.3
p.V501A
c.1502T>C
2 papers
NM_000423.3
p.T500P
c.1498A>C
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