Varaico: Literature-Extracted Genetic Variants

KRTAP4-4

11 papers

RefSeq Summary

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family m...

Pfam Domains

Keratin_B2_2aa 5–49UCSCKeratin, high sulfur B2 protein

Keratin_B2_2aa 30–74UCSCKeratin, high sulfur B2 protein

Keratin_B2_2aa 70–119UCSCKeratin, high sulfur B2 protein

Keratin_B2_2aa 115–159UCSCKeratin, high sulfur B2 protein

Gene Aliases

HGNC Name

keratin associated protein 4-4

HGNC Previous Symbol

KRTAP4-13

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_032524.2

p.C115G

c.343T>G

Surrounding Variants

1 paper

NM_032524.2

p.V127G

c.380T>G

1 paper

NM_032524.2

p.T93S

c.278C>G

1 paper

NM_032524.2

p.T93S

c.277A>T

1 paper

NM_032524.2

p.C146C

c.438C>T

1 paper

NM_032524.2

p.S68P

c.202T>C

1 paper

NM_032524.2

p.R47K

c.140G>A

1 paper

NM_032524.2

p.R22C

c.64C>T

1 paper

NM_032524.2

p.S8Y

c.23C>A

1 paper

NM_032524.2

p.G7insFs

c.20dupG