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

18 papers

NM_000095.3

p.G427E

c.1280G>A

Surrounding Variants

1 paper

NM_000095.3

p.G427A

c.1280G>C

1 paper

NM_000095.3

p.V426A

c.1277T>C

1 paper

NM_000095.3

p.F425I

c.1273T>A

1 paper

NM_000095.3

p.G427_D431delFs

c.1279_1291del13

1 paper

NM_000095.3

p.D422A

c.1265A>C

1 paper

NM_000095.3

p.V421A

c.1262T>C

3 papers

NM_000095.3

p.D420A

c.1259A>C

1 paper

NM_000095.3

p.D435H

c.1303G>C

2 papers

NM_000095.3

p.D435V

c.1304A>T

2 papers

NM_000095.3

p.Q418_A419Splc

c.1255-5C>T

1 paper

NM_000095.3

p.D437Y

c.1309G>T

2 papers

NM_000095.3

p.D437N

c.1309G>A