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

2 papers

NM_198691.3

p.C252R

c.754T>C

Surrounding Variants

1 paper

NM_198691.3

p.V248I

c.742G>A

1 paper

NM_198691.3

p.M246V

c.736A>G

1 paper

NM_198691.3

p.A260S

c.778G>T

2 papers

NM_198691.3

p.R241Q

c.722G>A

1 paper

NM_198691.3

p.C263F

c.788G>T

1 paper

NM_198691.3

p.A276T

c.826G>A

1 paper

NM_198691.3

p.P280L

c.839C>T

1 paper

NM_198691.3

p.A219T

c.655G>A

1 paper

NM_198691.3

p.I197M

c.591C>G

1 paper

NM_198691.3

p.I197V

c.589A>G

1 paper

NM_198691.3

p.C194F

c.581G>T

1 paper

NM_198691.3

p.A182S

c.544G>T