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.C468F

c.1403G>T

Surrounding Variants

12 papers

NM_000095.3

p.C468Y

c.1403G>A

1 paper

NM_000095.3

p.D469G

c.1406A>G

1 paper

NM_000095.3

p.G465_D466delFs

c.1394_1397del4

6 papers

NM_000095.3

p.G465V

c.1394G>T

4 papers

NM_000095.3

p.G465D

c.1394G>A

5 papers

NM_000095.3

p.D471G

c.1412A>G

6 papers

NM_000095.3

p.D471A

c.1412A>C

5 papers

NM_000095.3

p.G465C

c.1393G>T

7 papers

NM_000095.3

p.G465R

c.1393G>C

13 papers

NM_000095.3

p.G465S

c.1393G>A

25 papers

NM_000095.3

p.D472Y

c.1414G>T

3 papers

NM_000095.3

p.D472H

c.1414G>C