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

13 papers

NM_000095.3

p.G440R

c.1318G>C

Surrounding Variants

14 papers

NM_000095.3

p.G440R

c.1318G>A

2 papers

NM_000095.3

p.G440V

c.1319G>T

11 papers

NM_000095.3

p.G440E

c.1319G>A

4 papers

NM_000095.3

p.D439E

c.1317C>G

4 papers

NM_000095.3

p.D439E

c.1317C>A

2 papers

NM_000095.3

p.D439G

c.1316A>G

1 paper

NM_000095.3

p.G440insFs

c.1319dupG

2 papers

NM_000095.3

p.D439N

c.1315G>A

1 paper

NM_000095.3

p.H441R

c.1322A>G

1 paper

NM_000095.3

p.Q442R

c.1325A>G

7 papers

NM_000095.3

p.D437G

c.1310A>G

1 paper

NM_000095.3

p.D437Y

c.1309G>T