Varaico: Literature-Extracted Genetic Variants

Gene:EGFL7
Variant:p.R70K

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
Selected Variant
1 paper
NM_016215.5
p.R70K
c.209G>A
Surrounding Variants
1 paper
NM_016215.5
p.A72T
c.214G>A
2 papers
NM_016215.5
p.R74C
c.220C>T
1 paper
NM_016215.5
p.R75_S76delFs
c.224_227del4
1 paper
NM_016215.5
p.S76R
c.226A>C
1 paper
NM_016215.5
p.S76R
c.228C>A
1 paper
NM_016215.5
p.S76R
c.228C>G
1 paper
NM_016215.5
p.R85H
c.254G>A
1 paper
NM_016215.5
p.G91S
c.271G>A
1 paper
NM_016215.5
p.G91D
c.272G>A
1 paper
NM_016215.5
p.G91A
c.272G>C
1 paper
NM_016215.5
p.G97E
c.290G>A
1 paper
NM_016215.5
p.L98F
c.292C>T
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