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

1–12 of 78 variants

3 papers

NM_002380.5

p.T187M

c.560C>T

3 papers

NM_002380.5

p.K356E

c.1066A>G

2 papers

NM_002380.5

p.T461M

c.1382C>T

2 papers

NM_002380.5

p.A599T

c.1795G>A

2 papers

NM_002380.5

p.D773H

c.2317G>C

2 papers

NM_002380.5

p.T855M

c.2564C>T

2 papers

NM_002380.5

p.V932I

c.2794G>A

1 paper

NM_002380.5

p.I16V

c.46A>G

1 paper

NM_002380.5

p.A38T

c.112G>A

1 paper

NM_002380.5

p.T44M

c.131C>T

1 paper

NM_002380.5

p.A56V

c.167C>T

1 paper

NM_002380.5

p.R66H

c.197G>A