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.A5V

c.14C>T

Surrounding Variants

2 papers

NM_002381.5

p.P11S

c.31C>T

1 paper

NM_002381.5

p.L22fs

c.64_65fs

1 paper

NM_002381.5

p.P24L

c.71C>T

1 paper

NM_002381.5

p.S25Y

c.74C>A

1 paper

NM_002381.5

p.A27_P28delFs

c.81_84del4

1 paper

NM_002381.5

p.G35D

c.104G>A

1 paper

NM_002381.5

p.A56G

c.167C>G

8 papers

NM_002381.5

p.R70H

c.209G>A

1 paper

NM_002381.5

p.D83V

c.248A>T

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