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.G589fs

c.1765_1766fs

Surrounding Variants

3 papers

NM_006121.4

p.Y587fs

c.1759_1760fs

5 papers

NM_006121.4

p.G586_Y587insFs

c.1758_1759insT

2 papers

NM_006121.4

p.G586insFs

c.1756_1757insG

3 papers

NM_006121.4

p.S584insFs

c.1752dupT

2 papers

NM_006121.4

p.G585fs

c.1753_1754fs

8 papers

NM_006121.4

p.S584_G585insFs

c.1752_1753insG

1 paper

NM_006121.4

p.S584fs

c.1750_1751fs

1 paper

NM_006121.4

p.G594_G596delFs

c.1780_1787del8

1 paper

NM_006121.4

p.S598fs

c.1792_1793fs

1 paper

NM_006121.4

p.S598insFs

c.1792dupA

1 paper

NM_006121.4

p.G579R

c.1735G>C

1 paper

NM_006121.4

p.H575R

c.1724A>G