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

1 paper

NM_033061.4

p.S93R

c.277A>C

Surrounding Variants

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.M91V

c.271A>G

1 paper

NM_033061.4

p.K96R

c.287A>G

1 paper

NM_033061.4

p.Q101H

c.303G>C

1 paper

NM_033061.4

p.Q101H

c.303G>T

3 papers

NM_033061.4

p.T108S

c.322A>T

3 papers

NM_033061.4

p.T108S

c.323C>G

1 paper

NM_033061.4

p.S113_P117del0

c.337_351del15

4 papers

NM_033061.4

p.R111H

c.332G>A

1 paper

NM_033061.4

p.C115_R116ins5

c.345_346ins15

3 papers

NM_033061.4

p.S113fs

c.337_338fs