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

1–12 of 565 variants

58 papers

NM_000095.3

p.D469del1

c.1405_1406delGTC

40 papers

NM_000095.3

p.T585M

c.1754C>T

25 papers

NM_000095.3

p.D472Y

c.1414G>T

22 papers

NM_000095.3

p.H587R

c.1760A>G

22 papers

NM_000095.3

p.R718W

c.2152C>T

18 papers

NM_000095.3

p.G427E

c.1280G>A

17 papers

NM_000095.3

p.D475N

c.1423G>A

16 papers

NM_000095.3

p.D446N

c.1336G>A

15 papers

NM_000095.3

p.C328R

c.982T>C

15 papers

NM_000095.3

p.T585R

c.1754C>G

14 papers

NM_000095.3

p.G440R

c.1318G>A

13 papers

NM_000095.3

p.G309R

c.925G>C