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.M339delFs

c.1016delA

Surrounding Variants

3 papers

NM_006121.4

p.M339K

c.1016T>A

1 paper

NM_006121.4

p.D340_N341ins5

c.1018_1022ins15

2 papers

NM_006121.4

p.M339fs

c.1015_1016fs

9 papers

NM_006121.4

p.D340V

c.1019A>T

2 papers

NM_006121.4

p.D340G

c.1019A>G

1 paper

NM_006121.4

p.S338P

c.1012T>C

1 paper

NM_006121.4

p.L337H

c.1010T>A

2 papers

NM_006121.4

p.R343H

c.1028G>A

2 papers

NM_006121.4

p.T328S

c.983C>G

2 papers

NM_006121.4

p.T328S

c.982A>T

1 paper

NM_006121.4

p.I351fs

c.1051_1052fs

1 paper

NM_006121.4

p.I351_A352delFs

c.1053_1054delCA