Varaico: Literature-Extracted Genetic Variants

Gene:EGFL7
Variant:p.G114R

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.G114R
c.340G>C
Surrounding Variants
1 paper
NM_016215.5
p.G114R
c.340G>A
1 paper
NM_016215.5
p.R112Q
c.335G>A
1 paper
NM_016215.5
p.I106V
c.316A>G
1 paper
NM_016215.5
p.A127T
c.379G>A
1 paper
NM_016215.5
p.W129*
c.386G>A
1 paper
NM_016215.5
p.W129*
c.387G>A
1 paper
NM_016215.5
p.T133S
c.397A>T
1 paper
NM_016215.5
p.T133S
c.398C>G
1 paper
NM_016215.5
p.D139_E140del2
c.415_419del6
3 papers
NM_016215.5
p.E140K
c.418G>A
1 paper
NM_016215.5
p.L98F
c.292C>T
1 paper
NM_016215.5
p.G97E
c.290G>A
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