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

1 paper

NM_001393530.1

p.S391N

c.1172G>A

Surrounding Variants

1 paper

NM_001393530.1

p.Q388Q

c.1164G>A

2 papers

NM_001393530.1

p.R394H

c.1181G>A

1 paper

NM_001393530.1

p.E396K

c.1186G>A

1 paper

NM_001393530.1

p.F397C

c.1190T>G

1 paper

NM_001393530.1

p.R383W

c.1147C>T

1 paper

NM_001393530.1

p.P379S

c.1135C>T

1 paper

NM_001393530.1

p.G403fs

c.1207_1208fs

1 paper

NM_001393530.1

p.G403delFs

c.1208delC

1 paper

NM_001393530.1

p.D376delFs

c.1126delC

1 paper

NM_001393530.1

p.D376fs

c.1126_1127fs

1 paper

NM_001393530.1

p.F374V

c.1120T>G

1 paper

NM_001393530.1

p.V364L

c.1090G>T