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

5 papers

NM_033061.4

p.L148V

c.442T>G

Surrounding Variants

1 paper

NM_033061.4

p.R146H

c.437G>A

1 paper

NM_033061.4

p.C150C

c.450T>C

2 papers

NM_033061.4

p.T143S

c.428C>G

2 papers

NM_033061.4

p.T143S

c.427A>T

1 paper

NM_033061.4

p.L121fs

c.361_362fs

4 papers

NM_033061.4

p.L121V

c.361C>G

1 paper

NM_033061.4

p.L121delFs

c.362delT

1 paper

NM_033061.4

p.C120ins1

c.358_359insGTC

2 papers

NM_033061.4

p.C115_R116ins5

c.345_346ins15

3 papers

NM_033061.4

p.S113fs

c.337_338fs

11 papers

NM_033061.4

p.S113C

c.337A>T

1 paper

NM_033061.4

p.C115_R116ins5

c.345_346ins15