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

15 papers

NM_000095.3

p.C328R

c.982T>C

Surrounding Variants

1 paper

NM_000095.3

p.C328Y

c.983G>A

1 paper

NM_000095.3

p.P329fs

c.985_986fs

3 papers

NM_000095.3

p.D326G

c.977A>G

6 papers

NM_000095.3

p.D326Y

c.976G>T

3 papers

NM_000095.3

p.D326N

c.976G>A

1 paper

NM_000095.3

p.P329_L330delFs

c.985_988del4

1 paper

NM_000095.3

p.P334L

c.1001C>T

1 paper

NM_000095.3

p.L330_R337del0

c.989_1009del21

1 paper

NM_000095.3

p.T339R

c.1016C>G

1 paper

NM_000095.3

p.D340G

c.1019A>G

1 paper

NM_000095.3

p.D340_E341del1

c.1020_1022delTCG

10 papers

NM_000095.3

p.D342Y

c.1024G>T