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

1 paper

NM_006121.4

p.G556S

c.1666G>A

Surrounding Variants

1 paper

NM_006121.4

p.G556fs

c.1666_1667fs

2 papers

NM_006121.4

p.G556R

c.1666G>C

1 paper

NM_006121.4

p.G555G

c.1665A>C

7 papers

NM_006121.4

p.S557G

c.1669A>G

1 paper

NM_006121.4

p.G556del1

c.1666_1667delACC

2 papers

NM_006121.4

p.Y559Y

c.1677C>T

1 paper

NM_006121.4

p.Y559del1

c.1675_1676delGTA

1 paper

NM_006121.4

p.S561S

c.1683C>T

1 paper

NM_006121.4

p.G556_G562delFs

c.1666_1685del20

1 paper

NM_006121.4

p.G563fs

c.1687_1688fs

1 paper

NM_006121.4

p.G548del1

c.1642_1643delGCC

1 paper

NM_006121.4

p.G563delFs

c.1688delC