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.G519delFs

c.1556delC

Surrounding Variants

1 paper

NM_006121.4

p.G519G

c.1557A>T

1 paper

NM_006121.4

p.G519E

c.1556G>A

1 paper

NM_006121.4

p.G519fs

c.1555_1556fs

1 paper

NM_006121.4

p.G516_S517Fs

c.1546_1551delinsTFs

2 papers

NM_006121.4

p.S517insFs

c.1549dupA

1 paper

NM_006121.4

p.G522G

c.1566C>T

1 paper

NM_006121.4

p.G516fs

c.1546_1547fs

3 papers

NM_006121.4

p.G515insFs

c.1544dupG

1 paper

NM_006121.4

p.G523insFs

c.1568dupG

1 paper

NM_006121.4

p.G524fs

c.1570_1571fs

1 paper

NM_006121.4

p.G514*

c.1540G>T

1 paper

NM_006121.4

p.S513delFs

c.1539delA