Varaico: Literature-Extracted Genetic Variants

COMP

398 papers

RefSeq Summary

The protein encoded by this gene is a noncollagenous extracellular matrix (ECM) protein. It consists of five identical glycoprotein subunits, each with EGF-like and calcium-binding (thrombospondin-lik...

Pfam Domains

COMPaa 29–73UCSCCartilage oligomeric matrix protein

EGF_CAaa 127–178UCSCCalcium-binding EGF domain

EGF_CAaa 180–221UCSCCalcium-binding EGF domain

TSP_3aa 301–336UCSCThrombospondin type 3 repeat

TSP_3aa 360–395UCSCThrombospondin type 3 repeat

TSP_3aa 395–418UCSCThrombospondin type 3 repeat

Gene Aliases

HGNC Name

cartilage oligomeric matrix protein

HGNC Previous Symbols

PSACH; EDM1; EPD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000095.3

p.P296R

c.887C>G

Surrounding Variants

1 paper

NM_000095.3

p.P296T

c.886C>A

8 papers

NM_000095.3

p.S298L

c.893C>T

1 paper

NM_000095.3

p.T294I

c.881C>T

8 papers

NM_000095.3

p.G299R

c.895G>C

8 papers

NM_000095.3

p.G299R

c.895G>A

2 papers

NM_000095.3

p.G299E

c.896G>A

1 paper

NM_000095.3

p.V293M

c.877G>A

8 papers

NM_000095.3

p.C292W

c.876C>G

1 paper

NM_000095.3

p.C292Y

c.875G>A

2 papers

NM_000095.3

p.C292G

c.874T>G

2 papers

NM_000095.3

p.C292R

c.874T>C

2 papers

NM_000095.3

p.D302Y

c.904G>T