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

8 papers

NM_002381.5

p.I192N

c.575T>A

Surrounding Variants

3 papers

NM_002381.5

p.I192T

c.575T>C

3 papers

NM_002381.5

p.A191D

c.572C>A

31 papers

NM_002381.5

p.V194D

c.581T>A

1 paper

NM_002381.5

p.T195R

c.584C>G

4 papers

NM_002381.5

p.T195K

c.584C>A

1 paper

NM_002381.5

p.I187insFs

c.560_561ins5

1 paper

NM_002381.5

p.R181Q

c.542G>A

1 paper

NM_002381.5

p.R181*

c.541C>T

2 papers

NM_002381.5

p.E205E

c.615G>A

1 paper

NM_002381.5

p.D171_E177del0

c.513_530del18

1 paper

NM_002381.5

p.A207V

c.620C>T

1 paper

NM_002381.5

p.V176L

c.526G>T