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

Selected Variant

2 papers

NM_198694.3

p.L235V

c.703C>G

Surrounding Variants

1 paper

NM_198694.3

p.I228V

c.682A>G

1 paper

NM_198694.3

p.L224_P227del4

c.670_680del12

1 paper

NM_198694.3

p.Q248*

c.742C>T

1 paper

NM_198694.3

p.R253H

c.758G>A

3 papers

NM_198694.3

p.P268R

c.803C>G

1 paper

NM_198694.3

p.S198L

c.593C>T

4 papers

NM_198694.3

p.C183F

c.548G>T

1 paper

NM_198694.3

p.P175H

c.524C>A

1 paper

NM_198694.3

p.S157C

c.469A>T

1 paper

NM_198694.3

p.H155Q

c.465T>G

1 paper

NM_198694.3

p.H155Q

c.465T>A

2 papers

NM_198694.3

p.V139M

c.415G>A