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.D317A

c.950A>C

Surrounding Variants

3 papers

NM_000095.3

p.D317G

c.950A>G

1 paper

NM_000095.3

p.D317Y

c.949G>T

2 papers

NM_000095.3

p.D317N

c.949G>A

2 papers

NM_000095.3

p.D319H

c.955G>C

3 papers

NM_000095.3

p.D319V

c.956A>T

2 papers

NM_000095.3

p.C312_P314del0

c.934_942del9

1 paper

NM_000095.3

p.D313D

c.939T>C

1 paper

NM_000095.3

p.P322A

c.964C>G

2 papers

NM_000095.3

p.C312Y

c.935G>A

2 papers

NM_000095.3

p.A311D

c.932C>A

1 paper

NM_000095.3

p.E324*

c.970G>T

3 papers

NM_000095.3

p.D310V

c.929A>T