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

6 papers

NM_000095.3

p.S459del1

c.1375_1377delTGA

Surrounding Variants

1 paper

NM_000095.3

p.D460H

c.1378G>C

7 papers

NM_000095.3

p.E457_D458del1

c.1371_1373delTCC

2 papers

NM_000095.3

p.D458Y

c.1372G>T

1 paper

NM_000095.3

p.D458N

c.1372G>A

1 paper

NM_000095.3

p.E457K

c.1369G>A

1 paper

NM_000095.3

p.D462delFs

c.1386delA

3 papers

NM_000095.3

p.Q456del1

c.1366_1368delCTG

1 paper

NM_000095.3

p.G463D

c.1388G>A

1 paper

NM_000095.3

p.S454_A455del1

c.1362_1364delGCA

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