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

1 paper

NM_006121.4

p.K472N

c.1416G>C

Surrounding Variants

1 paper

NM_006121.4

p.K472N

c.1416G>T

2 papers

NM_006121.4

p.L468_L473Fs

c.1403_1417delinsAFs

2 papers

NM_006121.4

p.L461_K472delFs

c.1383_1414del32

2 papers

NM_006121.4

p.T471T

c.1413A>C

2 papers

NM_006121.4

p.T471insFs

c.1411_1412insA

5 papers

NM_006121.4

p.L475P

c.1424T>C

2 papers

NM_006121.4

p.L477P

c.1430T>C

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

3 papers

NM_006121.4

p.E478G

c.1433A>G

16 papers

NM_006121.4

p.E478D

c.1434G>T