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

1 paper

NM_002381.5

p.D83V

c.248A>T

Surrounding Variants

1 paper

NM_002381.5

p.V94I

c.280G>A

1 paper

NM_002381.5

p.R95Q

c.284G>A

1 paper

NM_002381.5

p.P96S

c.286C>T

1 paper

NM_002381.5

p.T100T

c.300C>G

1 paper

NM_002381.5

p.K101N

c.303A>T

1 paper

NM_002381.5

p.K101N

c.303A>C

4 papers

NM_002381.5

p.F105S

c.314T>C

1 paper

NM_002381.5

p.L113V

c.337C>G

2 papers

NM_002381.5

p.D119N

c.355G>A

20 papers

NM_002381.5

p.T120M

c.359C>T

30 papers

NM_002381.5

p.R121W

c.361C>T

4 papers

NM_002381.5

p.R121Q

c.362G>A