Varaico: Literature-Extracted Genetic Variants

KRTAP10-1

34 papers

RefSeq Summary

This gene encodes 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...

Pfam Domains

Keratin_B2_2aa 72–118UCSCKeratin, high sulfur B2 protein

Keratin_B2_2aa 114–160UCSCKeratin, high sulfur B2 protein

Keratin_B2_2aa 160–207UCSCKeratin, high sulfur B2 protein

Gene Aliases

HGNC Name

keratin associated protein 10-1

HGNC Previous Symbol

KRTAP18-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_198691.3

p.D159A

c.476A>C

Surrounding Variants

1 paper

NM_198691.3

p.D159_S160insFs

c.477_478insCA

4 papers

NM_198691.3

p.D159E

c.477T>G

4 papers

NM_198691.3

p.D159E

c.477T>A

1 paper

NM_198691.3

p.D159delFs

c.475_476delTC

1 paper

NM_198691.3

p.D159fs

c.475_476fs

1 paper

NM_198691.3

p.D159delins

c.475_477delinsTCA

3 papers

NM_198691.3

p.D159Y

c.475G>T

1 paper

NM_198691.3

p.S160fs

c.478_479fs

1 paper

NM_198691.3

p.E158*

c.472G>T

1 paper

NM_198691.3

p.A182S

c.544G>T

1 paper

NM_198691.3

p.C194F

c.581G>T

1 paper

NM_198691.3

p.I197V

c.589A>G