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

Selected Variant

9 papers

NM_002381.5

p.C304S

c.911G>C

Surrounding Variants

9 papers

NM_002381.5

p.C304S

c.910T>A

4 papers

NM_002381.5

p.T303T

c.909G>A

16 papers

NM_002381.5

p.T303M

c.908C>T

1 paper

NM_002381.5

p.A306P

c.916G>C

1 paper

NM_002381.5

p.G294E

c.881G>A

1 paper

NM_002381.5

p.E290*

c.868G>T

1 paper

NM_002381.5

p.C289R

c.865T>C

1 paper

NM_002381.5

p.H288Y

c.862C>T

1 paper

NM_002381.5

p.G285G

c.855C>T

2 papers

NM_002381.5

p.I280L

c.838A>C

1 paper

NM_002381.5

p.L265P

c.794T>C

1 paper

NM_002381.5

p.A306Splc

c.917-81A>G