Varaico: Literature-Extracted Genetic Variants

KRTAP4-5

39 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 25–69UCSCKeratin, high sulfur B2 protein

Keratin_B2_2aa 90–134UCSCKeratin, high sulfur B2 protein

Keratin_B2_2aa 130–174UCSCKeratin, high sulfur B2 protein

Gene Aliases

HGNC Name

keratin associated protein 4-5

HGNC Alias Symbol

KAP4.5

Papers

RefSeq ID

Protein change

DNA change

1–12 of 33 variants

11 papers

NM_033188.4

p.C79S

c.235T>A

11 papers

NM_033188.4

p.C79S

c.236G>C

6 papers

NM_033188.4

p.R87K

c.260G>A

5 papers

NM_033188.4

p.Q82H

c.246G>T

5 papers

NM_033188.4

p.Q82H

c.246G>C

5 papers

NM_033188.4

p.T83P

c.247A>C

5 papers

NM_033188.4

p.T84S

c.250A>T

5 papers

NM_033188.4

p.T84S

c.251C>G

3 papers

NM_033188.4

p.S74C

c.220A>T

3 papers

NM_033188.4

p.Q82ins5

c.244_245ins15

2 papers

NM_033188.4

p.Q27R

c.80A>G

2 papers

NM_033188.4

p.Y69_S74del0

c.206_220del15