Varaico: Literature-Extracted Genetic Variants

KRTAP10-4

45 papers

RefSeq Summary

This is an intronless gene located in a cluster of related genes on the q arm of chromosome 21. The proteins encoded by these genes form disulfide bonds with cysteine residues in hair keratins, thereb...

Pfam Domains

Keratin_B2_2aa 202–249UCSCKeratin, high sulfur B2 protein

Keratin_B2_2aa 247–294UCSCKeratin, high sulfur B2 protein

Keratin_B2_2aa 292–336UCSCKeratin, high sulfur B2 protein

Gene Aliases

HGNC Name

keratin associated protein 10-4

HGNC Previous Symbol

KRTAP18-4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_198687.2

p.Q312P

c.935A>C

Surrounding Variants

1 paper

NM_198687.2

p.Q312H

c.936A>C

1 paper

NM_198687.2

p.Q312H

c.936A>T

1 paper

NM_198687.2

p.Q312*

c.934C>T

1 paper

NM_198687.2

p.S313C

c.937A>T

1 paper

NM_198687.2

p.T309A

c.925A>G

1 paper

NM_198687.2

p.G316A

c.947G>C

1 paper

NM_198687.2

p.P305L

c.914C>T

1 paper

NM_198687.2

p.P305S

c.913C>T

1 paper

NM_198687.2

p.P325T

c.973C>A

1 paper

NM_198687.2

p.P330S

c.988C>T

1 paper

NM_198687.2

p.I289V

c.865A>G

2 papers

NM_198687.2

p.C285G

c.853T>G