Varaico: Literature-Extracted Genetic Variants

CRTAP

163 papers

RefSeq Summary

The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/A...

Pfam Domains

TPR_leprecanaa 43–265UCSCLeprecan family TPR-like repeat region

TPR_leprecanaa 260–299UCSCLeprecan family TPR-like repeat region

Gene Aliases

HGNC Name

cartilage associated protein

HGNC Alias Symbols

LEPREL3; P3H5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_006371.5

p.Y187*

c.561T>A

Surrounding Variants

3 papers

NM_006371.5

p.Y187*

c.561T>G

4 papers

NM_006371.5

p.A186A

c.558A>G

1 paper

NM_006371.5

p.S190N

c.569G>A

1 paper

NM_006371.5

p.G193delFs

c.579delT

1 paper

NM_006371.5

p.E179G

c.536A>G

5 papers

NM_006371.5

p.D178D

c.534C>T

1 paper

NM_006371.5

p.D177Y

c.529G>T

1 paper

NM_006371.5

p.L201P

c.602T>C

1 paper

NM_006371.5

p.L172V

c.514C>G

1 paper

NM_006371.5

p.H169delFs

c.505_506delCA

4 papers

NM_006371.5

p.E207_S208Splc

c.621+1G>A

14 papers

NM_006371.5

p.K157_A158Splc

c.472-1021C>G