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

1–12 of 154 variants

14 papers

NM_006371.5

p.K157_A158Splc

c.472-1021C>G

8 papers

NM_006371.5

p.K157_A158Splc

c.471+2C>A

8 papers

NM_006371.5

p.Q276*

c.826C>T

7 papers

NM_006371.5

p.S348S

c.1044G>A

6 papers

NM_006371.5

p.T344T

c.1032T>G

6 papers

NM_006371.5

p.E384_G385Splc

c.1153-3C>G

5 papers

NM_006371.5

p.L71L

c.213G>A

5 papers

NM_006371.5

p.D178D

c.534C>T

4 papers

NM_006371.5

p.G7_A8insFs

c.21_22dupGG

4 papers

NM_006371.5

p.A8_L11delFs

c.24_31del8

4 papers

NM_006371.5

p.G24_Y31del8

c.70_92del24

4 papers

NM_006371.5

p.E40*

c.118G>T