Varaico: Literature-Extracted Genetic Variants

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

Selected Variant

6 papers

NM_006121.4

p.G622insFs

c.1865_1866insG

Surrounding Variants

1 paper

NM_006121.4

p.G622V

c.1865G>T

1 paper

NM_006121.4

p.V623fs

c.1867_1868fs

1 paper

NM_006121.4

p.K624fs

c.1870_1871fs

4 papers

NM_006121.4

p.S620_G621insFs

c.1860_1861insT

1 paper

NM_006121.4

p.G621fs

c.1861_1862fs

1 paper

NM_006121.4

p.S620P

c.1858T>C

1 paper

NM_006121.4

p.K624_S625delFs

c.1870_1874del5

1 paper

NM_006121.4

p.S626P

c.1876T>C

3 papers

NM_006121.4

p.S626T

c.1876T>A

1 paper

NM_006121.4

p.S629insFs

c.1886_1887insG

1 paper

NM_006121.4

p.G614*

c.1840G>T

1 paper

NM_006121.4

p.S631T

c.1892G>C