Varaico: Literature-Extracted Genetic Variants

Gene:VIT
Variant:p.E14D

VIT

45 papers

RefSeq Summary

This gene encodes an extracellular matrix (ECM) protein. The protein may be associated with cell adhesion and migration. High levels of expression of the protein in specific parts of the brain suggest...

Pfam Domains

LCCLaa 39–133UCSCLCCL domain
VWAaa 293–465UCSCvon Willebrand factor type A domain
VWAaa 495–663UCSCvon Willebrand factor type A domain

Gene Aliases

HGNC Name

vitrin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_053276.4
p.E14D
c.42A>T
Surrounding Variants
1 paper
NM_053276.4
p.E14A
c.41A>C
1 paper
NM_053276.4
p.V18I
c.52G>A
1 paper
NM_053276.4
p.R2M
c.5G>T
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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."