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

2 papers

NM_006121.4

p.G567_G569del3

c.1699_1706del9

Surrounding Variants

1 paper

NM_006121.4

p.G572fs

c.1714_1715fs

1 paper

NM_006121.4

p.G571_G572delFs

c.1713_1714delCG

1 paper

NM_006121.4

p.G573C

c.1717G>T

1 paper

NM_006121.4

p.G573S

c.1717G>A

1 paper

NM_006121.4

p.G574_H575ins1

c.1722_1723insGGC

1 paper

NM_006121.4

p.H575R

c.1724A>G

1 paper

NM_006121.4

p.S565T

c.1694G>C

2 papers

NM_006121.4

p.S565G

c.1693A>G

10 papers

NM_006121.4

p.G553_Y559del0

c.1657_1677del21

1 paper

NM_006121.4

p.G563delFs

c.1688delC

1 paper

NM_006121.4

p.G563fs

c.1687_1688fs

1 paper

NM_006121.4

p.G556_G562delFs

c.1666_1685del20