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.T40A

c.118A>G

Surrounding Variants

1 paper

NM_002379.3

p.V45L

c.133G>C

1 paper

NM_002379.3

p.S49insFs

c.146_147insC

1 paper

NM_002379.3

p.V52I

c.154G>A

1 paper

NM_002379.3

p.R53W

c.157C>T

1 paper

NM_002379.3

p.E56A

c.167A>C

1 paper

NM_002379.3

p.K59N

c.177A>T

1 paper

NM_002379.3

p.K59N

c.177A>C

1 paper

NM_002379.3

p.I68delins

c.204delinsTGTGTGTGTG

1 paper

NM_002379.3

p.S70*

c.209C>A

1 paper

NM_002379.3

p.G74E

c.221G>A

1 paper

NM_002379.3

p.P75A

c.223C>G

1 paper

NM_002379.3

p.T88I

c.263C>T