Varaico: Literature-Extracted Genetic Variants

MATN4

50 papers

RefSeq Summary

This gene encodes a member of von Willebrand factor A domain-containing protein family. The proteins of this family are thought to be involved in the formation of filamentous networks in the extracell...

Pfam Domains

VWAaa 34–208UCSCvon Willebrand factor type A domain

VWAaa 263–437UCSCvon Willebrand factor type A domain

Matrilin_ccoilaa 453–495UCSCTrimeric coiled-coil oligomerisation domain of matrilin

Gene Aliases

HGNC Name

matrilin 4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001393530.1

p.V123M

c.367G>A

Surrounding Variants

2 papers

NM_001393530.1

p.A120T

c.358G>A

1 paper

NM_001393530.1

p.R102C

c.304C>T

1 paper

NM_001393530.1

p.I101M

c.303C>G

1 paper

NM_001393530.1

p.R94C

c.280C>T

1 paper

NM_001393530.1

p.R93H

c.278G>A

1 paper

NM_001393530.1

p.R93C

c.277C>T

1 paper

NM_001393530.1

p.F91V

c.271T>G

2 papers

NM_001393530.1

p.R164S

c.490C>A

4 papers

NM_001393530.1

p.G172A

c.515G>C

1 paper

NM_001393530.1

p.R72S

c.214C>A

1 paper

NM_001393530.1

p.T71A

c.211A>G

1 paper

NM_001393530.1

p.L64insFs

c.190dupC