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.A8V

c.23C>T

Surrounding Variants

3 papers

NM_006371.5

p.A8fs

c.22_23fs

4 papers

NM_006371.5

p.A8_L11delFs

c.24_31del8

2 papers

NM_006371.5

p.A10fs

c.28_29fs

1 paper

NM_006371.5

p.A8insFs

c.22dupG

4 papers

NM_006371.5

p.G7_A8insFs

c.21_22dupGG

1 paper

NM_006371.5

p.A8delFs

c.22delG

1 paper

NM_006371.5

p.R6_A9insFs

c.18_25dup8

3 papers

NM_006371.5

p.A13E

c.38C>A

3 papers

NM_006371.5

p.M1I

c.3G>A

1 paper

NM_006371.5

p.M1I

c.3G>C

1 paper

NM_006371.5

p.M1I

c.3G>T

2 papers

NM_006371.5

p.M1T

c.2T>C