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.D446G

c.1337A>G

Surrounding Variants

3 papers

NM_000095.3

p.D446H

c.1336G>C

16 papers

NM_000095.3

p.D446N

c.1336G>A

7 papers

NM_000095.3

p.C448S

c.1342T>A

7 papers

NM_000095.3

p.C448S

c.1343G>C

7 papers

NM_000095.3

p.P449T

c.1345C>A

1 paper

NM_000095.3

p.D443A

c.1328A>C

1 paper

NM_000095.3

p.P449P

c.1347C>A

2 papers

NM_000095.3

p.P449del1

c.1345_1347delGGG

1 paper

NM_000095.3

p.T450M

c.1349C>T

1 paper

NM_000095.3

p.Q442R

c.1325A>G

1 paper

NM_000095.3

p.V451_P452insFLV

c.1351_1355ins9

1 paper

NM_000095.3

p.H441R

c.1322A>G