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.V268_V270del0

c.804_809del6

Surrounding Variants

1 paper

NM_006371.5

p.V270F

c.808G>T

1 paper

NM_006371.5

p.D265Splc

c.794-1G>C

1 paper

NM_006371.5

p.D265Splc

c.794-2A>G

1 paper

NM_006371.5

p.L271_E279del9

c.811_836del27

1 paper

NM_006371.5

p.K274fs

c.820_821fs

1 paper

NM_006371.5

p.K274_Q276Fs

c.822_826delinsTFs

8 papers

NM_006371.5

p.Q276*

c.826C>T

1 paper

NM_006371.5

p.C277del1

c.829_831delTGT

1 paper

NM_006371.5

p.C277_E278insFs

c.831_832insC

1 paper

NM_006371.5

p.G287_L301del15

c.859_902del45

1 paper

NM_006371.5

p.E291del1

c.871_873delGAG

2 papers

NM_006371.5

p.F293delFs

c.879delT