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.R96P

c.287G>C

Surrounding Variants

1 paper

NM_002379.3

p.L95L

c.285G>A

2 papers

NM_002379.3

p.A97G

c.290C>G

1 paper

NM_002379.3

p.S94L

c.281C>T

1 paper

NM_002379.3

p.S94T

c.280T>A

1 paper

NM_002379.3

p.K101N

c.303G>C

1 paper

NM_002379.3

p.Q91K

c.271C>A

2 papers

NM_002379.3

p.V89M

c.265G>A

1 paper

NM_002379.3

p.T88I

c.263C>T

2 papers

NM_002379.3

p.R110H

c.329G>A

1 paper

NM_002379.3

p.P75A

c.223C>G

1 paper

NM_002379.3

p.G74E

c.221G>A

1 paper

NM_002379.3

p.S70*

c.209C>A