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.F191I

c.571T>A

Surrounding Variants

1 paper

NM_006121.4

p.F191L

c.571T>C

3 papers

NM_006121.4

p.F191C

c.572T>G

2 papers

NM_006121.4

p.N189_Q190del1

c.567_569delTGG

1 paper

NM_006121.4

p.F191L

c.573T>G

1 paper

NM_006121.4

p.F191L

c.573T>A

1 paper

NM_006121.4

p.A192D

c.575C>A

1 paper

NM_006121.4

p.A192A

c.576C>A

5 papers

NM_006121.4

p.S186_N188delFs

c.557_563del7

9 papers

NM_006121.4

p.S193P

c.577T>C

7 papers

NM_006121.4

p.N188K

c.564C>G

7 papers

NM_006121.4

p.N188K

c.564C>A

1 paper

NM_006121.4

p.N188I

c.563A>T