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.N453delFs

c.1359delG

Surrounding Variants

7 papers

NM_000095.3

p.S454R

c.1360A>C

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

7 papers

NM_000095.3

p.S454R

c.1362T>G

7 papers

NM_000095.3

p.S454R

c.1362T>A

3 papers

NM_000095.3

p.N453S

c.1358A>G

1 paper

NM_000095.3

p.S454_A455del1

c.1362_1364delGCA

5 papers

NM_000095.3

p.V451ins3

c.1352_1353ins9

1 paper

NM_000095.3

p.V451insFs

c.1352_1353insT

1 paper

NM_000095.3

p.V451_P452insFLV

c.1351_1355ins9

1 paper

NM_000095.3

p.E457K

c.1369G>A