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

3 papers

NM_000095.3

p.D472H

c.1414G>C

Surrounding Variants

25 papers

NM_000095.3

p.D472Y

c.1414G>T

2 papers

NM_000095.3

p.D472N

c.1414G>A

1 paper

NM_000095.3

p.D472G

c.1415A>G

5 papers

NM_000095.3

p.D471G

c.1412A>G

6 papers

NM_000095.3

p.D471A

c.1412A>C

7 papers

NM_000095.3

p.D473Y

c.1417G>T

9 papers

NM_000095.3

p.D473H

c.1417G>C

11 papers

NM_000095.3

p.D473N

c.1417G>A

11 papers

NM_000095.3

p.D473G

c.1418A>G

2 papers

NM_000095.3

p.D473_N474ins1

c.1419_1420insGAC

1 paper

NM_000095.3

p.D473_N474ins2

c.1419_1420ins6

3 papers

NM_000095.3

p.D473ins0

c.1417_1419dupGAC