Varaico: Literature-Extracted Genetic Variants

MATN1

152 papers

RefSeq Summary

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

Pfam Domains

VWAaa 41–215UCSCvon Willebrand factor type A domain

FXa_inhibitionaa 227–262UCSCCoagulation Factor Xa inhibitory site

VWAaa 275–446UCSCvon Willebrand factor type A domain

Matrilin_ccoilaa 451–495UCSCTrimeric coiled-coil oligomerisation domain of matrilin

Gene Aliases

HGNC Name

matrilin 1

HGNC Previous Symbols

CRTM; CMP

Papers

RefSeq ID

Protein change

DNA change

1–12 of 101 variants

3 papers

NM_002379.3

p.A219D

c.656C>A

2 papers

NM_002379.3

p.V89M

c.265G>A

2 papers

NM_002379.3

p.A97G

c.290C>G

2 papers

NM_002379.3

p.R110H

c.329G>A

2 papers

NM_002379.3

p.K211*

c.631A>T

2 papers

NM_002379.3

p.G282R

c.844G>A

2 papers

NM_002379.3

p.E425E

c.1275G>A

2 papers

NM_002379.3

p.K449Q

c.1345A>C

1 paper

NM_002379.3

p.M1I

c.3G>C

1 paper

NM_002379.3

p.R2G

c.4A>G

1 paper

NM_002379.3

p.S8S

c.24C>T

1 paper

NM_002379.3

p.C12S

c.34T>A