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

1 paper

NM_006371.5

p.R136H

c.407G>A

Surrounding Variants

1 paper

NM_006371.5

p.R136insFs

c.407dupG

2 papers

NM_006371.5

p.S135fs

c.403_404fs

3 papers

NM_006371.5

p.S135delFs

c.404delG

1 paper

NM_006371.5

p.S135fs

c.403_404fs

1 paper

NM_006371.5

p.Q133*

c.397C>T

1 paper

NM_006371.5

p.F142I

c.424T>A

1 paper

NM_006371.5

p.P147_Y148insFs

c.441_442insC

1 paper

NM_006371.5

p.G125insFs

c.375dupC

1 paper

NM_006371.5

p.K149E

c.445A>G

2 papers

NM_006371.5

p.K149R

c.446A>G

1 paper

NM_006371.5

p.K123R

c.368A>G

1 paper

NM_006371.5

p.K149K

c.447G>A