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.D475G

c.1424A>G

Surrounding Variants

3 papers

NM_000095.3

p.D475H

c.1423G>C

17 papers

NM_000095.3

p.D475N

c.1423G>A

1 paper

NM_000095.3

p.N474del1

c.1420_1421delATT

1 paper

NM_000095.3

p.D472_N474del0

c.1416_1421del6

2 papers

NM_000095.3

p.N474_D475ins0

c.1420_1425dup6

3 papers

NM_000095.3

p.D473ins0

c.1417_1419dupGAC

3 papers

NM_000095.3

p.D472_D473ins0

c.1414_1419dup6

58 papers

NM_000095.3

p.D469del1

c.1405_1406delGTC

5 papers

NM_000095.3

p.D472_D473del0

c.1414_1419del6

2 papers

NM_000095.3

p.D471_D473del0

c.1411_1419del9

1 paper

NM_000095.3

p.V477I

c.1429G>A

2 papers

NM_000095.3

p.D473_N474ins1

c.1419_1420insGAC