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.T478I

c.1433C>T

Surrounding Variants

1 paper

NM_002379.3

p.Q467*

c.1399C>T

1 paper

NM_002379.3

p.E454Splc

c.1360+143G>A

2 papers

NM_002379.3

p.K449Q

c.1345A>C

1 paper

NM_002379.3

p.Q442fs

c.1324_1325fs

1 paper

NM_002379.3

p.Q442insFs

c.1324dupC

2 papers

NM_002379.3

p.E425E

c.1275G>A

1 paper

NM_002379.3

p.R420M

c.1259G>T

1 paper

NM_002379.3

p.A414A

c.1242C>A

1 paper

NM_002379.3

p.A414V

c.1241C>T

1 paper

NM_002379.3

p.G412G

c.1236C>T

1 paper

NM_002379.3

p.G412A

c.1235G>C

1 paper

NM_002379.3

p.G403Splc

c.1207+1G>A