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.A691A

c.2073C>T

Surrounding Variants

1 paper

NM_002380.5

p.T686R

c.2057C>G

1 paper

NM_002380.5

p.V674M

c.2020G>A

1 paper

NM_002380.5

p.E672_V674delFs

c.2016_2020del5

1 paper

NM_002380.5

p.E672Q

c.2014G>C

1 paper

NM_002380.5

p.E672fs

c.2014_2015fs

2 papers

NM_002380.5

p.D773H

c.2317G>C

1 paper

NM_002380.5

p.A806V

c.2417C>T

1 paper

NM_002380.5

p.E818K

c.2452G>A

2 papers

NM_002380.5

p.T855M

c.2564C>T

1 paper

NM_002380.5

p.S907N

c.2720G>A

2 papers

NM_002380.5

p.V932I

c.2794G>A

1 paper

NM_002380.5

p.R933K

c.2798G>A