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

6 papers

NM_006371.5

p.E384_G385Splc

c.1153-3C>G

Surrounding Variants

1 paper

NM_006371.5

p.G385E

c.1154G>A

1 paper

NM_006371.5

p.E386A

c.1157A>C

1 paper

NM_006371.5

p.E384_G385Splc

c.1152+36C>A

1 paper

NM_006371.5

p.N378delFs

c.1132_1133delAA

1 paper

NM_006371.5

p.Y372fs

c.1114_1115fs

1 paper

NM_006371.5

p.L371insFs

c.1112dupT

1 paper

NM_006371.5

p.E370K

c.1108G>A

1 paper

NM_006371.5

p.V364M

c.1090G>A

1 paper

NM_006371.5

p.P356_E357Splc

c.1068+1G>T

1 paper

NM_006371.5

p.E350K

c.1048G>A

1 paper

NM_006371.5

p.D349G

c.1046A>G

1 paper

NM_006371.5

p.D349N

c.1045G>A