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.F231L

c.693T>G

Surrounding Variants

3 papers

NM_006121.4

p.F231L

c.693T>A

3 papers

NM_006121.4

p.F231L

c.691T>C

21 papers

NM_006121.4

p.S233L

c.698C>T

3 papers

NM_006121.4

p.H225_F234del0

c.673_702del30

1 paper

NM_006121.4

p.T224delFs

c.670_671delGT

8 papers

NM_006121.4

p.L214P

c.641T>C

1 paper

NM_006121.4

p.R251W

c.751C>T

1 paper

NM_006121.4

p.D253N

c.757G>A

1 paper

NM_006121.4

p.S254P

c.760T>C

1 paper

NM_006121.4

p.S254L

c.761C>T

1 paper

NM_006121.4

p.Q209*

c.625C>T

5 papers

NM_006121.4

p.L208P

c.623T>C