Varaico: Literature-Extracted Genetic Variants

Gene:KRT2
Variant:p.Y480H

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.Y480H
c.1438T>C
Surrounding Variants
3 papers
NM_000423.3
p.T479P
c.1435A>C
1 paper
NM_000423.3
p.A478T
c.1432G>A
1 paper
NM_000423.3
p.I477S
c.1430T>G
3 papers
NM_000423.3
p.I477N
c.1430T>A
2 papers
NM_000423.3
p.L483Q
c.1448T>A
1 paper
NM_000423.3
p.E476V
c.1427A>T
1 paper
NM_000423.3
p.L484insFs
c.1450_1451insC
2 papers
NM_000423.3
p.L484P
c.1451T>C
1 paper
NM_000423.3
p.N468_L473Fs
c.1403_1417delinsAFs
16 papers
NM_000423.3
p.E487K
c.1459G>A
1 paper
NM_000423.3
p.E487D
c.1461G>T
1 paper
NM_000423.3
p.E487D
c.1461G>C
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