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

Selected Variant

2 papers

NM_033188.4

p.Q82R

c.245A>G

Surrounding Variants

1 paper

NM_033188.4

p.Q82insFs

c.245_246ins13

2 papers

NM_033188.4

p.Q82delins

c.245delinsGCCCCAGCTGCTGCCA

5 papers

NM_033188.4

p.Q82H

c.246G>T

5 papers

NM_033188.4

p.Q82H

c.246G>C

1 paper

NM_033188.4

p.Q82*

c.244C>T

3 papers

NM_033188.4

p.Q82ins5

c.244_245ins15

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

11 papers

NM_033188.4

p.C79S

c.236G>C

11 papers

NM_033188.4

p.C79S

c.235T>A

1 paper

NM_033188.4

p.C86S

c.256T>A