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

2 papers

NM_006371.5

p.L67P

c.200T>C

Surrounding Variants

1 paper

NM_006371.5

p.Y66*

c.198C>A

1 paper

NM_006371.5

p.Y66*

c.198C>G

5 papers

NM_006371.5

p.L71L

c.213G>A

1 paper

NM_006371.5

p.S63del1

c.187_188delAGC

1 paper

NM_006371.5

p.E62_L77del16

c.184_230del48

1 paper

NM_006371.5

p.R75C

c.223C>T

1 paper

NM_006371.5

p.R78delFs

c.232delC

1 paper

NM_006371.5

p.G57_V64del0

c.170_190del21

1 paper

NM_006371.5

p.K54R

c.161A>G

1 paper

NM_006371.5

p.E81*

c.241G>T

3 papers

NM_006371.5

p.L52P

c.155T>C

1 paper

NM_006371.5

p.F83delFs

c.248_249delTC