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

2 papers

NM_000095.3

p.P449del1

c.1345_1347delGGG

Surrounding Variants

1 paper

NM_000095.3

p.T450M

c.1349C>T

1 paper

NM_000095.3

p.P449P

c.1347C>A

1 paper

NM_000095.3

p.V451_P452insFLV

c.1351_1355ins9

7 papers

NM_000095.3

p.P449T

c.1345C>A

1 paper

NM_000095.3

p.V451insFs

c.1352_1353insT

7 papers

NM_000095.3

p.C448S

c.1343G>C

7 papers

NM_000095.3

p.C448S

c.1342T>A

5 papers

NM_000095.3

p.V451ins3

c.1352_1353ins9

3 papers

NM_000095.3

p.N453S

c.1358A>G

4 papers

NM_000095.3

p.N453K

c.1359C>G

1 paper

NM_000095.3

p.N453fs

c.1357_1358fs

4 papers

NM_000095.3

p.N453K

c.1359C>A