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

6 papers

NM_000095.3

p.D482N

c.1444G>A

Surrounding Variants

8 papers

NM_000095.3

p.D482H

c.1444G>C

1 paper

NM_000095.3

p.R481R

c.1443G>A

1 paper

NM_000095.3

p.D482V

c.1445A>T

11 papers

NM_000095.3

p.D482G

c.1445A>G

1 paper

NM_000095.3

p.V477_D482del0

c.1430_1444del15

2 papers

NM_000095.3

p.R481Q

c.1442G>A

8 papers

NM_000095.3

p.C484G

c.1450T>G

1 paper

NM_000095.3

p.D479del1

c.1435_1436delGTC

2 papers

NM_000095.3

p.G476_D479del0

c.1426_1437del12

1 paper

NM_000095.3

p.C484Y

c.1451G>A

6 papers

NM_000095.3

p.D479Y

c.1435G>T

2 papers

NM_000095.3

p.D479H

c.1435G>C