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

2 papers

NM_002380.5

p.T461M

c.1382C>T

Surrounding Variants

1 paper

NM_002380.5

p.D503V

c.1508A>T

1 paper

NM_002380.5

p.C510Y

c.1529G>A

1 paper

NM_002380.5

p.P511L

c.1532C>T

1 paper

NM_002380.5

p.R430H

c.1289G>A

1 paper

NM_002380.5

p.E421K

c.1261G>A

1 paper

NM_002380.5

p.C529delFs

c.1585delT

1 paper

NM_002380.5

p.C529fs

c.1585_1586fs

1 paper

NM_002380.5

p.G535S

c.1603G>A

1 paper

NM_002380.5

p.E559K

c.1675G>A

1 paper

NM_002380.5

p.R566Splc

c.1696+1G>A