Varaico: Literature-Extracted Genetic Variants

MATN3

151 papers

RefSeq Summary

This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular ...

Pfam Domains

VWAaa 83–257UCSCvon Willebrand factor type A domain

EGF_CAaa 265–304UCSCCalcium-binding EGF domain

FXa_inhibitionaa 310–346UCSCCoagulation Factor Xa inhibitory site

EGF_CAaa 349–388UCSCCalcium-binding EGF domain

cEGFaa 412–431UCSCComplement Clr-like EGF-like

Matrilin_ccoilaa 439–483UCSCTrimeric coiled-coil oligomerisation domain of matrilin

Gene Aliases

HGNC Name

matrilin 3

HGNC Alias Symbols

EDM5; HOA

Papers

RefSeq ID

Protein change

DNA change

1–12 of 120 variants

31 papers

NM_002381.5

p.V194D

c.581T>A

30 papers

NM_002381.5

p.R121W

c.361C>T

20 papers

NM_002381.5

p.T120M

c.359C>T

16 papers

NM_002381.5

p.T303M

c.908C>T

9 papers

NM_002381.5

p.E252K

c.754G>A

9 papers

NM_002381.5

p.C304S

c.910T>A

9 papers

NM_002381.5

p.C304S

c.911G>C

8 papers

NM_002381.5

p.R70H

c.209G>A

8 papers

NM_002381.5

p.E134K

c.400G>A

8 papers

NM_002381.5

p.I192N

c.575T>A

7 papers

NM_002381.5

p.A219D

c.656C>A

6 papers

NM_002381.5

p.A128P

c.382G>C