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.I338M

c.1014C>G

Surrounding Variants

1 paper

NM_002379.3

p.L329delFs

c.986delA

1 paper

NM_002379.3

p.K350K

c.1050G>A

1 paper

NM_002379.3

p.R324C

c.970C>T

1 paper

NM_002379.3

p.G355R

c.1063G>C

1 paper

NM_002379.3

p.G355R

c.1063G>A

1 paper

NM_002379.3

p.S320A

c.958T>G

1 paper

NM_002379.3

p.G315W

c.943G>T

1 paper

NM_002379.3

p.I362insFs

c.1085dupT

1 paper

NM_002379.3

p.D363E

c.1089C>G

1 paper

NM_002379.3

p.D363E

c.1089C>A

1 paper

NM_002379.3

p.T367N

c.1100C>A

1 paper

NM_002379.3

p.D309G

c.926A>G