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

4 papers

NM_198687.2

p.I159V

c.475A>G

Surrounding Variants

1 paper

NM_198687.2

p.C146C

c.438C>T

1 paper

NM_198687.2

p.Q142Q

c.426G>A

3 papers

NM_198687.2

p.P127S

c.379C>T

1 paper

NM_198687.2

p.S198T

c.592T>A

1 paper

NM_198687.2

p.S198S

c.594A>G

1 paper

NM_198687.2

p.C119R

c.355T>C

1 paper

NM_198687.2

p.I201T

c.602T>C

2 papers

NM_198687.2

p.P216L

c.647C>T

1 paper

NM_198687.2

p.T220A

c.658A>G

1 paper

NM_198687.2

p.L97P

c.290T>C

2 papers

NM_198687.2

p.C95W

c.285C>G

3 papers

NM_198687.2

p.S223P

c.667T>C