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

2 papers

NM_002381.5

p.L146R

c.437T>G

Surrounding Variants

4 papers

NM_002381.5

p.A149A

c.447C>T

1 paper

NM_002381.5

p.V150delFs

c.449delA

1 paper

NM_002381.5

p.L156F

c.468G>T

8 papers

NM_002381.5

p.E134K

c.400G>A

1 paper

NM_002381.5

p.G159G

c.477C>T

1 paper

NM_002381.5

p.S129G

c.385A>G

1 paper

NM_002381.5

p.A128V

c.383C>T

6 papers

NM_002381.5

p.A128P

c.382G>C

1 paper

NM_002381.5

p.A165V

c.494C>T

1 paper

NM_002381.5

p.A123V

c.368C>T

2 papers

NM_002381.5

p.A123E

c.368C>A

4 papers

NM_002381.5

p.R121Q

c.362G>A