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.A306Splc

c.917-81A>G

Surrounding Variants

1 paper

NM_002381.5

p.A306P

c.916G>C

1 paper

NM_002381.5

p.L307R

c.920T>G

1 paper

NM_002381.5

p.A311D

c.932C>A

1 paper

NM_002381.5

p.L312_T314del0

c.934_942del9

1 paper

NM_002381.5

p.G316R

c.946G>C

1 paper

NM_002381.5

p.G316R

c.946G>A

1 paper

NM_002381.5

p.C317S

c.950G>C

1 paper

NM_002381.5

p.V322M

c.964G>A

1 paper

NM_002381.5

p.S328P

c.982T>C

1 paper

NM_002381.5

p.C333F

c.998G>T

1 paper

NM_002381.5

p.D342Y

c.1024G>T

1 paper

NM_002381.5

p.A348Splc

c.1042+258C>T