Varaico: Literature-Extracted Genetic Variants

KRTAP4-12

13 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

Keratin_B2_2aa 110–154UCSCKeratin, high sulfur B2 protein

Gene Aliases

HGNC Name

keratin associated protein 4-12

HGNC Alias Symbol

KAP4.12

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_031854.3

p.C126F

c.377G>T

Surrounding Variants

1 paper

NM_031854.3

p.P138fs

c.412_413fs

2 papers

NM_031854.3

p.R142H

c.425G>A

1 paper

NM_031854.3

p.C152R

c.454T>C

1 paper

NM_031854.3

p.R173*

c.517C>T

1 paper

NM_031854.3

p.R77H

c.230G>A

1 paper

NM_031854.3

p.C201del1

c.601_602delGCA

1 paper

NM_031854.3

p.R32_C36del0

c.94_108del15

1 paper

NM_031854.3

p.S24T

c.71G>C