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

15 papers

NM_006121.4

p.L437P

c.1310T>C

Surrounding Variants

1 paper

NM_006121.4

p.A436D

c.1307C>A

1 paper

NM_006121.4

p.A440V

c.1319C>T

1 paper

NM_006121.4

p.R432C

c.1294C>T

1 paper

NM_006121.4

p.N442K

c.1326C>G

1 paper

NM_006121.4

p.R432G

c.1294C>G

1 paper

NM_006121.4

p.N442K

c.1326C>A

1 paper

NM_006121.4

p.K443E

c.1327A>G

1 paper

NM_006121.4

p.K443_L444insFs

c.1329_1330insA

1 paper

NM_006121.4

p.A429_E430delFs

c.1287_1288delCT

1 paper

NM_006121.4

p.I426S

c.1277T>G

1 paper

NM_006121.4

p.A450D

c.1349C>A

4 papers

NM_006121.4

p.A454S

c.1360G>T