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

3 papers

NM_006121.4

p.S178P

c.532T>C

Surrounding Variants

1 paper

NM_006121.4

p.V176_K177del0

c.526_531del6

4 papers

NM_006121.4

p.K177N

c.531G>T

4 papers

NM_006121.4

p.K177N

c.531G>C

1 paper

NM_006121.4

p.K177T

c.530A>C

2 papers

NM_006121.4

p.R179*

c.535C>T

5 papers

NM_006121.4

p.R179P

c.536G>C

1 paper

NM_006121.4

p.R179Q

c.536G>A

1 paper

NM_006121.4

p.E180V

c.539A>T

1 paper

NM_006121.4

p.E180G

c.539A>G

1 paper

NM_006121.4

p.E182K

c.544G>A

1 paper

NM_006121.4

p.I184T

c.551T>C

1 paper

NM_006121.4

p.I184N

c.551T>A