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

Selected Variant

1 paper

NM_002379.3

p.L15Q

c.44T>A

Surrounding Variants

1 paper

NM_002379.3

p.L16V

c.46C>G

1 paper

NM_002379.3

p.L16P

c.47T>C

1 paper

NM_002379.3

p.S13N

c.38G>A

1 paper

NM_002379.3

p.C12S

c.34T>A

1 paper

NM_002379.3

p.S8S

c.24C>T

1 paper

NM_002379.3

p.P24A

c.70C>G

1 paper

NM_002379.3

p.R2G

c.4A>G

1 paper

NM_002379.3

p.M1I

c.3G>C

1 paper

NM_002379.3

p.Q29L

c.86A>T

1 paper

NM_002379.3

p.T40A

c.118A>G

1 paper

NM_002379.3

p.V45L

c.133G>C

1 paper

NM_002379.3

p.S49insFs

c.146_147insC