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

1–12 of 45 variants

4 papers

NM_198687.2

p.I159V

c.475A>G

3 papers

NM_198687.2

p.S11G

c.31A>G

3 papers

NM_198687.2

p.R62C

c.184C>T

3 papers

NM_198687.2

p.P127S

c.379C>T

3 papers

NM_198687.2

p.S223P

c.667T>C

2 papers

NM_198687.2

p.C95W

c.285C>G

2 papers

NM_198687.2

p.P216L

c.647C>T

2 papers

NM_198687.2

p.C285G

c.853T>G

2 papers

NM_198687.2

p.Q312P

c.935A>C

1 paper

NM_198687.2

p.M1R

c.2T>G

1 paper

NM_198687.2

p.V14I

c.40G>A

1 paper

NM_198687.2

p.S24S

c.72C>T