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

1 paper

NM_198687.2

p.P378P

c.1134T>C

Surrounding Variants

1 paper

NM_198687.2

p.P389R

c.1166C>G

1 paper

NM_198687.2

p.A395P

c.1183G>C

1 paper

NM_198687.2

p.*402C

c.1206A>C

1 paper

NM_198687.2

p.*402C

c.1206A>T

1 paper

NM_198687.2

p.P347P

c.1041A>G

1 paper

NM_198687.2

p.P330S

c.988C>T

1 paper

NM_198687.2

p.P325T

c.973C>A

1 paper

NM_198687.2

p.G316A

c.947G>C

1 paper

NM_198687.2

p.S313C

c.937A>T

1 paper

NM_198687.2

p.Q312H

c.936A>C

1 paper

NM_198687.2

p.Q312H

c.936A>T

2 papers

NM_198687.2

p.Q312P

c.935A>C