Varaico: Literature-Extracted Genetic Variants

Gene:VEGFD
Variant:p.L178fs

VEGFD

76 papers

RefSeq Summary

The protein encoded by this gene is a member of the platelet-derived growth factor/vascular endothelial growth factor (PDGF/VEGF) family and is active in angiogenesis, lymphangiogenesis, and endotheli...

Pfam Domains

PDGFaa 111–191UCSCPDGF/VEGF domain
CXCXCaa 261–273UCSCCXCXC repeat

Gene Aliases

HGNC Name

vascular endothelial growth factor D

HGNC Previous Symbol

FIGF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004469.5
p.L178fs
c.532_533fs
Surrounding Variants
1 paper
NM_004469.5
p.E177K
c.529G>A
1 paper
NM_004469.5
p.S174*
c.521C>G
1 paper
NM_004469.5
p.S174*
c.521C>A
1 paper
NM_004469.5
p.E167*
c.499G>T
1 paper
NM_004469.5
p.T194R
c.581C>G
1 paper
NM_004469.5
p.R197H
c.590G>A
1 paper
NM_004469.5
p.R204S
c.612A>T
1 paper
NM_004469.5
p.R204S
c.612A>C
1 paper
NM_004469.5
p.R205S
c.615A>T
1 paper
NM_004469.5
p.R205S
c.615A>C
1 paper
NM_004469.5
p.Q208R
c.623A>G
8 papers
NM_004469.5
p.E212Q
c.634G>C
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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."