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.D605Y

c.1813G>T

Surrounding Variants

4 papers

NM_000095.3

p.D605N

c.1813G>A

1 paper

NM_000095.3

p.V591_S606delFs

c.1771_1816del46

1 paper

NM_000095.3

p.Y610C

c.1829A>G

1 paper

NM_000095.3

p.G598_F599delFs

c.1792_1795del4

1 paper

NM_000095.3

p.V612I

c.1834G>A

1 paper

NM_000095.3

p.D595A

c.1784A>C

1 paper

NM_000095.3

p.D594D

c.1782C>T

1 paper

NM_000095.3

p.D594A

c.1781A>C

1 paper

NM_000095.3

p.D593A

c.1778A>C

1 paper

NM_000095.3

p.V591fs

c.1771_1772fs

1 paper

NM_000095.3

p.V591delFs

c.1771delC

1 paper

NM_000095.3

p.E618D

c.1854G>C