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.A26insFs

c.77dupC

Surrounding Variants

4 papers

NM_006371.5

p.G24_Y31del8

c.70_92del24

1 paper

NM_006371.5

p.R22C

c.64C>T

1 paper

NM_006371.5

p.R30C

c.88C>T

1 paper

NM_006371.5

p.L21fs

c.61_62fs

1 paper

NM_006371.5

p.C19fs

c.55_56fs

1 paper

NM_006371.5

p.L21_A26delFs

c.62_77del16

3 papers

NM_006371.5

p.A13E

c.38C>A

4 papers

NM_006371.5

p.E40*

c.118G>T

1 paper

NM_006371.5

p.E40fs

c.118_119fs

2 papers

NM_006371.5

p.E40_E45Fs

c.118_133delinsTACCCFs

1 paper

NM_006371.5

p.L41fs

c.121_122fs

1 paper

NM_006371.5

p.L41_L52delFs

c.122_156del35