Varaico: Literature-Extracted Genetic Variants

Gene:EGFL7

EGFL7

60 papers

RefSeq Summary

This gene encodes a secreted endothelial cell protein that contains two epidermal growth factor-like domains. The encoded protein may play a role in regulating vasculogenesis. This protein may be invo...

Pfam Domains

EMIaa 28–94UCSCEMI domain
EGF_2aa 107–134UCSCEGF-like domain
FXa_inhibitionaa 141–176UCSCCoagulation Factor Xa inhibitory site

Gene Aliases

HGNC Name

EGF like domain multiple 7

HGNC Alias Symbol

ZNEU1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 62 variants
5 papers
NM_016215.5
p.V153I
c.457G>A
3 papers
NM_016215.5
p.E140K
c.418G>A
2 papers
NM_016215.5
p.R60Q
c.179G>A
2 papers
NM_016215.5
p.R66Q
c.197G>A
2 papers
NM_016215.5
p.R74C
c.220C>T
2 papers
NM_016215.5
p.T155I
c.464C>T
2 papers
NM_016215.5
p.D208N
c.622G>A
2 papers
NM_016215.5
p.E212_K213Splc
c.636+1G>A
1 paper
NM_016215.5
p.A16insFs
c.48dupA
1 paper
NM_016215.5
p.G27D
c.80G>A
1 paper
NM_016215.5
p.R34W
c.100C>T
1 paper
NM_016215.5
p.P39H
c.116C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."