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.G459C

c.1375G>T

Surrounding Variants

1 paper

NM_001393530.1

p.R445C

c.1333C>T

1 paper

NM_001393530.1

p.Q440H

c.1320G>C

1 paper

NM_001393530.1

p.R429R

c.1287G>A

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.F397C

c.1190T>G

1 paper

NM_001393530.1

p.E396K

c.1186G>A

2 papers

NM_001393530.1

p.R394H

c.1181G>A

1 paper

NM_001393530.1

p.S391N

c.1172G>A

1 paper

NM_001393530.1

p.Q388Q

c.1164G>A

1 paper

NM_001393530.1

p.A500S

c.1498G>T

1 paper

NM_001393530.1

p.R383W

c.1147C>T