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.T134I

c.401C>T

Surrounding Variants

1 paper

NM_002380.5

p.L130L

c.388C>T

1 paper

NM_002380.5

p.A139V

c.416C>T

1 paper

NM_002380.5

p.A123P

c.367G>C

1 paper

NM_002380.5

p.R116W

c.346A>T

1 paper

NM_002380.5

p.A154V

c.461C>T

1 paper

NM_002380.5

p.P156H

c.467C>A

1 paper

NM_002380.5

p.R163Q

c.488G>A

1 paper

NM_002380.5

p.T104I

c.311C>T

1 paper

NM_002380.5

p.V168M

c.502G>A

1 paper

NM_002380.5

p.R95L

c.284G>T

1 paper

NM_002380.5

p.I89F

c.265A>T

3 papers

NM_002380.5

p.T187M

c.560C>T