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

8 papers

NM_006121.4

p.N188T

c.563A>C

Surrounding Variants

1 paper

NM_006121.4

p.N188I

c.563A>T

15 papers

NM_006121.4

p.N188S

c.563A>G

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.N188D

c.562A>G

5 papers

NM_006121.4

p.N188H

c.562A>C

1 paper

NM_006121.4

p.L187P

c.560T>C

5 papers

NM_006121.4

p.S186_N188delFs

c.557_563del7

13 papers

NM_006121.4

p.L187F

c.559C>T

1 paper

NM_006121.4

p.S186delFs

c.556delA

5 papers

NM_006121.4

p.S186P

c.556T>C

2 papers

NM_006121.4

p.N189_Q190del1

c.567_569delTGG