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

1–12 of 50 variants

4 papers

NM_001393530.1

p.G172A

c.515G>C

3 papers

NM_001393530.1

p.G522S

c.1564G>A

2 papers

NM_001393530.1

p.A120T

c.358G>A

2 papers

NM_001393530.1

p.V123M

c.367G>A

2 papers

NM_001393530.1

p.R164S

c.490C>A

2 papers

NM_001393530.1

p.R394H

c.1181G>A

1 paper

NM_001393530.1

p.R2delFs

c.5delC

1 paper

NM_001393530.1

p.F37F

c.111C>T

1 paper

NM_001393530.1

p.V38M

c.112G>A

1 paper

NM_001393530.1

p.R43C

c.127C>T

1 paper

NM_001393530.1

p.S44S

c.132C>T

1 paper

NM_001393530.1

p.Q55*

c.163C>T