Varaico: Literature-Extracted Genetic Variants

MATN2

75 papers

RefSeq Summary

This gene encodes a member of the von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellu...

Pfam Domains

VWAaa 57–231UCSCvon Willebrand factor type A domain

FXa_inhibitionaa 242–277UCSCCoagulation Factor Xa inhibitory site

FXa_inhibitionaa 283–318UCSCCoagulation Factor Xa inhibitory site

FXa_inhibitionaa 324–359UCSCCoagulation Factor Xa inhibitory site

FXa_inhibitionaa 365–400UCSCCoagulation Factor Xa inhibitory site

FXa_inhibitionaa 406–441UCSCCoagulation Factor Xa inhibitory site

Gene Aliases

HGNC Name

matrilin 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002380.5

p.V321A

c.962T>C

Surrounding Variants

1 paper

NM_002380.5

p.D322E

c.966C>A

1 paper

NM_002380.5

p.D322E

c.966C>G

1 paper

NM_002380.5

p.A325V

c.974C>T

1 paper

NM_002380.5

p.S326L

c.977C>T

1 paper

NM_002380.5

p.E334Q

c.1000G>C

1 paper

NM_002380.5

p.K356fs

c.1066_1067fs

3 papers

NM_002380.5

p.K356E

c.1066A>G

1 paper

NM_002380.5

p.T358M

c.1073C>T