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.Q152R

c.455A>G

Surrounding Variants

1 paper

NM_006371.5

p.F153V

c.457T>G

2 papers

NM_006371.5

p.L151P

c.452T>C

1 paper

NM_006371.5

p.K149K

c.447G>A

2 papers

NM_006371.5

p.K149R

c.446A>G

1 paper

NM_006371.5

p.K149E

c.445A>G

4 papers

NM_006371.5

p.K157E

c.469A>G

1 paper

NM_006371.5

p.K157R

c.470A>G

3 papers

NM_006371.5

p.K157_A158Splc

c.471+1G>C

1 paper

NM_006371.5

p.P147_Y148insFs

c.441_442insC

8 papers

NM_006371.5

p.K157_A158Splc

c.471+2C>A

1 paper

NM_006371.5

p.K157_A158Splc

c.471+2C>G

1 paper

NM_006371.5

p.K157_A158Splc

c.471+2C>T