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

1 paper

NM_198691.3

p.P39R

c.116C>G

Surrounding Variants

2 papers

NM_198691.3

p.P39L

c.116C>T

1 paper

NM_198691.3

p.L34P

c.101T>C

1 paper

NM_198691.3

p.H30P

c.89A>C

2 papers

NM_198691.3

p.P64S

c.190C>T

2 papers

NM_198691.3

p.P66A

c.196C>G

1 paper

NM_198691.3

p.A12T

c.34G>A

3 papers

NM_198691.3

p.V101M

c.301G>A

1 paper

NM_198691.3

p.E158*

c.472G>T

1 paper

NM_198691.3

p.D159fs

c.475_476fs

3 papers

NM_198691.3

p.D159Y

c.475G>T

4 papers

NM_198691.3

p.D159A

c.476A>C

1 paper

NM_198691.3

p.D159_S160insFs

c.477_478insCA