Varaico: Literature-Extracted Genetic Variants

KRTAP9-3

17 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 4–46UCSCKeratin, high sulfur B2 protein

Keratin_B2_2aa 27–69UCSCKeratin, high sulfur B2 protein

Keratin_B2_2aa 65–109UCSCKeratin, high sulfur B2 protein

Gene Aliases

HGNC Name

keratin associated protein 9-3

HGNC Alias Symbol

KAP9.3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_031962.3

p.T50P

c.148A>C

Surrounding Variants

1 paper

NM_031962.3

p.T50T

c.150T>G

1 paper

NM_031962.3

p.C37R

c.109T>C

1 paper

NM_031962.3

p.P79T

c.235C>A

6 papers

NM_031962.3

p.Q20K

c.58C>A

1 paper

NM_031962.3

p.C13F

c.38G>T

1 paper

NM_031962.3

p.S6P

c.16T>C

1 paper

NM_031962.3

p.L113Q

c.338T>A

1 paper

NM_031962.3

p.N124S

c.371A>G

1 paper

NM_031962.3

p.R131C

c.391C>T

1 paper

NM_031962.3

p.T142A

c.424A>G