Varaico: Literature-Extracted Genetic Variants

Gene:KRT2
Variant:p.A452D

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.A452D
c.1355C>A
Surrounding Variants
1 paper
NM_000423.3
p.R458Q
c.1373G>A
1 paper
NM_000423.3
p.R461H
c.1382G>A
1 paper
NM_000423.3
p.R439R
c.1317G>A
2 papers
NM_000423.3
p.E465V
c.1394A>T
1 paper
NM_000423.3
p.A434V
c.1301C>T
1 paper
NM_000423.3
p.L471insFs
c.1411_1412insA
1 paper
NM_000423.3
p.R461_A472delFs
c.1383_1414del32
1 paper
NM_000423.3
p.N468_L473Fs
c.1403_1417delinsAFs
1 paper
NM_000423.3
p.E476V
c.1427A>T
1 paper
NM_000423.3
p.I477S
c.1430T>G
3 papers
NM_000423.3
p.I477N
c.1430T>A
1 paper
NM_000423.3
p.A478T
c.1432G>A
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