Varaico: Literature-Extracted Genetic Variants

Gene:EGFL7
Variant:p.D208N

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
2 papers
NM_016215.5
p.D208N
c.622G>A
Surrounding Variants
1 paper
NM_016215.5
p.Q204fs
c.610_611fs
1 paper
NM_016215.5
p.L203_E212delFs
c.609_636del28
1 paper
NM_016215.5
p.L203insFs
c.607_608insA
1 paper
NM_016215.5
p.L203fs
c.607_608fs
2 papers
NM_016215.5
p.E212_K213Splc
c.636+1G>A
1 paper
NM_016215.5
p.E198K
c.592G>A
1 paper
NM_016215.5
p.P187delFs
c.559delC
1 paper
NM_016215.5
p.A186_N188del0
c.557_562del6
1 paper
NM_016215.5
p.P187_P189delFs
c.559_565del7
1 paper
NM_016215.5
p.T174T
c.522A>G
1 paper
NM_016215.5
p.G173S
c.517G>A
1 paper
NM_016215.5
p.H167R
c.500A>G
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