Varaico: Literature-Extracted Genetic Variants

Gene:MATN2
Variant:p.A38T

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.A38T
c.112G>A
Surrounding Variants
1 paper
NM_002380.5
p.T44M
c.131C>T
1 paper
NM_002380.5
p.I16V
c.46A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."