Varaico: Literature-Extracted Genetic Variants

KRTAP4-7

59 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 1–53UCSCKeratin, high sulfur B2 protein

Keratin_B2_2aa 34–78UCSCKeratin, high sulfur B2 protein

Keratin_B2_2aa 79–124UCSCKeratin, high sulfur B2 protein

Gene Aliases

HGNC Name

keratin associated protein 4-7

HGNC Alias Symbol

KAP4.7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

10 papers

NM_033061.4

p.S57P

c.169T>C

Surrounding Variants

1 paper

NM_033061.4

p.Q53fs

c.157_158fs

1 paper

NM_033061.4

p.T68S

c.202A>T

1 paper

NM_033061.4

p.T68S

c.203C>G

1 paper

NM_033061.4

p.Y40C

c.119A>G

1 paper

NM_033061.4

p.C35*

c.105C>A

2 papers

NM_033061.4

p.C34C

c.102T>C

1 paper

NM_033061.4

p.P27R

c.80C>G

1 paper

NM_033061.4

p.M91V

c.271A>G

1 paper

NM_033061.4

p.S93R

c.277A>C

1 paper

NM_033061.4

p.S93R

c.279C>A

1 paper

NM_033061.4

p.S93R

c.279C>G

1 paper

NM_033061.4

p.D18Y

c.52G>T