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

4 papers

NM_006371.5

p.E40*

c.118G>T

Surrounding Variants

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

1 paper

NM_006371.5

p.E45*

c.133G>T

1 paper

NM_006371.5

p.A47A

c.141C>A

2 papers

NM_006371.5

p.Y48C

c.143A>G

1 paper

NM_006371.5

p.R30C

c.88C>T

3 papers

NM_006371.5

p.L52P

c.155T>C

1 paper

NM_006371.5

p.A26insFs

c.77dupC

1 paper

NM_006371.5

p.K54R

c.161A>G

1 paper

NM_006371.5

p.G57_V64del0

c.170_190del21