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.L486Q

c.1457T>A

Surrounding Variants

3 papers

NM_006121.4

p.L486R

c.1457T>G

7 papers

NM_006121.4

p.L486P

c.1457T>C

1 paper

NM_006121.4

p.L485_L486del1

c.1455_1457delAGG

2 papers

NM_006121.4

p.E487K

c.1459G>A

6 papers

NM_006121.4

p.L485P

c.1454T>C

1 paper

NM_006121.4

p.L485F

c.1453C>T

1 paper

NM_006121.4

p.L485V

c.1453C>G

1 paper

NM_006121.4

p.G488R

c.1462G>C

1 paper

NM_006121.4

p.G488R

c.1462G>A

1 paper

NM_006121.4

p.G488V

c.1463G>T

2 papers

NM_006121.4

p.T484insFs

c.1450_1451insC

2 papers

NM_006121.4

p.T484_G488Fs

c.1452_1464delinsAGFs