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

12 papers

NM_006121.4

p.I479F

c.1435A>T

Surrounding Variants

29 papers

NM_006121.4

p.I479T

c.1436T>C

2 papers

NM_006121.4

p.I479N

c.1436T>A

16 papers

NM_006121.4

p.E478D

c.1434G>T

16 papers

NM_006121.4

p.E478D

c.1434G>C

3 papers

NM_006121.4

p.E478G

c.1433A>G

1 paper

NM_006121.4

p.E478*

c.1432G>T

10 papers

NM_006121.4

p.E478Q

c.1432G>C

9 papers

NM_006121.4

p.E478K

c.1432G>A

2 papers

NM_006121.4

p.L477P

c.1430T>C

3 papers

NM_006121.4

p.T481P

c.1441A>C

8 papers

NM_006121.4

p.Y482C

c.1445A>G

5 papers

NM_006121.4

p.L475P

c.1424T>C