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.R740C

c.2218C>T

Surrounding Variants

1 paper

NM_000095.3

p.R738H

c.2213G>A

1 paper

NM_000095.3

p.N742insFs

c.2224_2225insC

1 paper

NM_000095.3

p.S728delFs

c.2184delG

1 paper

NM_000095.3

p.F725insFs

c.2174dupT

1 paper

NM_000095.3

p.V724I

c.2170G>A

1 paper

NM_000095.3

p.G723E

c.2168G>A

1 paper

NM_000095.3

p.L722V

c.2164C>G

1 paper

NM_000095.3

p.R721C

c.2161C>T

2 papers

NM_000095.3

p.D743Splc

c.2228-40T>C

13 papers

NM_000095.3

p.G719D

c.2156G>A

11 papers

NM_000095.3

p.G719S

c.2155G>A

9 papers

NM_000095.3

p.R718P

c.2153G>C