Varaico: Literature-Extracted Genetic Variants

KRTAP10-5

22 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 64–108UCSCKeratin, high sulfur B2 protein

Keratin_B2_2aa 106–149UCSCKeratin, high sulfur B2 protein

Keratin_B2_2aa 148–196UCSCKeratin, high sulfur B2 protein

Keratin_B2_2aa 185–228UCSCKeratin, high sulfur B2 protein

Gene Aliases

HGNC Name

keratin associated protein 10-5

HGNC Previous Symbol

KRTAP18-5

Papers

RefSeq ID

Protein change

DNA change

1–12 of 19 variants

4 papers

NM_198694.3

p.C183F

c.548G>T

3 papers

NM_198694.3

p.P268R

c.803C>G

2 papers

NM_198694.3

p.P30H

c.89C>A

2 papers

NM_198694.3

p.V139M

c.415G>A

2 papers

NM_198694.3

p.L235V

c.703C>G

1 paper

NM_198694.3

p.R18Q

c.53G>A

1 paper

NM_198694.3

p.P58S

c.172C>T

1 paper

NM_198694.3

p.S67N

c.200G>A

1 paper

NM_198694.3

p.P71T

c.211C>A

1 paper

NM_198694.3

p.Q75_P76delFs

c.224_227del4

1 paper

NM_198694.3

p.H155Q

c.465T>G

1 paper

NM_198694.3

p.H155Q

c.465T>A