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.A91A

c.273G>A

Surrounding Variants

1 paper

NM_006371.5

p.A91_Q93del0

c.271_279del9

1 paper

NM_006371.5

p.S89I

c.266G>T

1 paper

NM_006371.5

p.E95fs

c.283_284fs

1 paper

NM_006371.5

p.P96_A101del0

c.287_301del15

1 paper

NM_006371.5

p.F83delFs

c.248_249delTC

1 paper

NM_006371.5

p.E81*

c.241G>T

1 paper

NM_006371.5

p.E105_F109del0

c.314_325del12

1 paper

NM_006371.5

p.R78delFs

c.232delC

2 papers

NM_006371.5

p.R107delFs

c.320_321delGC

1 paper

NM_006371.5

p.R107fs

c.319_320fs

1 paper

NM_006371.5

p.R75C

c.223C>T

1 paper

NM_006371.5

p.G110E

c.329G>A