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

4 papers

NM_002381.5

p.K231N

c.693G>T

Surrounding Variants

4 papers

NM_002381.5

p.K231N

c.693G>C

1 paper

NM_002381.5

p.A228V

c.683C>T

1 paper

NM_002381.5

p.R224Q

c.671G>A

1 paper

NM_002381.5

p.R224W

c.670C>T

5 papers

NM_002381.5

p.V220A

c.659T>C

7 papers

NM_002381.5

p.A219D

c.656C>A

5 papers

NM_002381.5

p.V245M

c.733G>A

3 papers

NM_002381.5

p.Y218N

c.652T>A

1 paper

NM_002381.5

p.I251T

c.752T>C

9 papers

NM_002381.5

p.E252K

c.754G>A

5 papers

NM_002381.5

p.R209P

c.626G>C

1 paper

NM_002381.5

p.A207V

c.620C>T