Varaico: Literature-Extracted Genetic Variants

Gene:KRT1

KRT1

355 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 16–176UCSCKeratin type II head
Filamentaa 179–492UCSCIntermediate filament protein
Keratin_2_tailaa 493–640UCSCKeratin type II cytoskeletal 1 tail

Gene Aliases

HGNC Name

keratin 1

HGNC Previous Symbol

EHK1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 315 variants
29 papers
NM_006121.4
p.I479T
c.1436T>C
21 papers
NM_006121.4
p.S233L
c.698C>T
16 papers
NM_006121.4
p.E478D
c.1434G>T
16 papers
NM_006121.4
p.E478D
c.1434G>C
15 papers
NM_006121.4
p.N188S
c.563A>G
15 papers
NM_006121.4
p.L437P
c.1310T>C
13 papers
NM_006121.4
p.L187F
c.559C>T
12 papers
NM_006121.4
p.I479F
c.1435A>T
10 papers
NM_006121.4
p.E478Q
c.1432G>C
10 papers
NM_006121.4
p.G553_Y559del0
c.1657_1677del21
9 papers
NM_006121.4
p.S193P
c.577T>C
9 papers
NM_006121.4
p.D340V
c.1019A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."