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.K185R

c.554A>G

Surrounding Variants

1 paper

NM_002379.3

p.K185E

c.553A>G

1 paper

NM_002379.3

p.S182S

c.546C>T

1 paper

NM_002379.3

p.R189G

c.565C>G

1 paper

NM_002379.3

p.R189Q

c.566G>A

1 paper

NM_002379.3

p.S193N

c.578G>A

1 paper

NM_002379.3

p.A177V

c.530C>T

1 paper

NM_002379.3

p.E194A

c.581A>C

1 paper

NM_002379.3

p.D197Y

c.589G>T

1 paper

NM_002379.3

p.E198*

c.592G>T

1 paper

NM_002379.3

p.V200I

c.598G>A

1 paper

NM_002379.3

p.A166insFs

c.497_498insA

1 paper

NM_002379.3

p.S160N

c.479G>A