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.F200L

c.600C>G

Surrounding Variants

2 papers

NM_006121.4

p.F200L

c.600C>A

1 paper

NM_006121.4

p.F200S

c.599T>C

2 papers

NM_006121.4

p.L201P

c.602T>C

2 papers

NM_006121.4

p.F200L

c.598T>C

1 paper

NM_006121.4

p.E202K

c.604G>A

1 paper

NM_006121.4

p.V198G

c.593T>G

1 paper

NM_006121.4

p.V198M

c.592G>A

2 papers

NM_006121.4

p.Q203R

c.608A>G

5 papers

NM_006121.4

p.L208P

c.623T>C

1 paper

NM_006121.4

p.Q209*

c.625C>T

8 papers

NM_006121.4

p.L214P

c.641T>C

1 paper

NM_006121.4

p.T224delFs

c.670_671delGT