Varaico: Literature-Extracted Genetic Variants

KRTAP4-2

7 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 45–89UCSCKeratin, high sulfur B2 protein

Keratin_B2_2aa 85–129UCSCKeratin, high sulfur B2 protein

Gene Aliases

HGNC Name

keratin associated protein 4-2

HGNC Alias Symbol

KAP4.2

Papers

RefSeq ID

Protein change

DNA change

1 paper

NM_033062.4

p.C46F

c.137G>T

1 paper

NM_033062.4

p.S62R

c.184A>C

1 paper

NM_033062.4

p.S62R

c.186C>G

1 paper

NM_033062.4

p.S62R

c.186C>A

1 paper

NM_033062.4

p.Y95C

c.284A>G

1 paper

NM_033062.4

p.R117H

c.350G>A

1 paper

NM_033062.4

p.T129I

c.386C>T

1 paper

NM_033062.4

p.C135fs

c.403_404fs