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.N334H

c.1000A>C

Surrounding Variants

1 paper

NM_006371.5

p.Q333P

c.998A>C

1 paper

NM_006371.5

p.V330V

c.990C>A

1 paper

NM_006371.5

p.Y340*

c.1020C>G

3 papers

NM_006371.5

p.H341D

c.1021C>G

1 paper

NM_006371.5

p.Q326*

c.976C>T

6 papers

NM_006371.5

p.T344T

c.1032T>G

4 papers

NM_006371.5

p.L347F

c.1039C>T

1 paper

NM_006371.5

p.S320_Y321del2

c.958_962del6

7 papers

NM_006371.5

p.S348S

c.1044G>A

1 paper

NM_006371.5

p.D349N

c.1045G>A

1 paper

NM_006371.5

p.D349G

c.1046A>G

1 paper

NM_006371.5

p.E350K

c.1048G>A