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.G537C

c.1609G>T

Surrounding Variants

1 paper

NM_006121.4

p.G537Fs

c.1609_1610delinsAFs

1 paper

NM_006121.4

p.G540fs

c.1618_1619fs

1 paper

NM_006121.4

p.Y539_G540insFs

c.1617_1618dupTG

1 paper

NM_006121.4

p.G533fs

c.1597_1598fs

1 paper

NM_006121.4

p.Y532_G533insFs

c.1596_1597insAT

1 paper

NM_006121.4

p.G542*

c.1624G>T

1 paper

NM_006121.4

p.G543fs

c.1627_1628fs

7 papers

NM_006121.4

p.G543delFs

c.1628delC

2 papers

NM_006121.4

p.G526delFs

c.1577delC

1 paper

NM_006121.4

p.G526fs

c.1576_1577fs

1 paper

NM_006121.4

p.G548del1

c.1642_1643delGCC

1 paper

NM_006121.4

p.G524fs

c.1570_1571fs