Varaico: Literature-Extracted Genetic Variants

KRT79

143 papers

RefSeq Summary

Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes an epithelial ...

Pfam Domains

Keratin_2_headaa 15–102UCSCKeratin type II head

Keratin_2_headaa 77–138UCSCKeratin type II head

Filamentaa 141–456UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 79

HGNC Alias Symbols

K6L; KRT6L

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_175834.3

p.Q8K

c.22C>A

Surrounding Variants

1 paper

NM_175834.3

p.R7W

c.19C>T

1 paper

NM_175834.3

p.S6delins

c.16_18delinsTTA

1 paper

NM_175834.3

p.R2S

c.6G>T

1 paper

NM_175834.3

p.R2S

c.6G>C

1 paper

NM_175834.3

p.M1I

c.3G>T

1 paper

NM_175834.3

p.M1I

c.3G>C

1 paper

NM_175834.3

p.M1I

c.3G>A

1 paper

NM_175834.3

p.M1T

c.2T>C

1 paper

NM_175834.3

p.G15A

c.44G>C

1 paper

NM_175834.3

p.G15D

c.44G>A

1 paper

NM_175834.3

p.F16S

c.47T>C

1 paper

NM_175834.3

p.S17I

c.50G>T